SNP Links for Gene (Select 2475) - SNP

Links from Gene

Items: 1 to 20 of 36005

<< First< Prev

Page of 1801

Next >Last >>

Select item 14915551891.

rs1491555189 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:11220959 (GRCh38)
1:11281016 (GRCh37)
Canonical SPDI:: NC_000001.11:11220958:GA:
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.11220959_11220960del, NC_000001.10:g.11281016_11281017del, NG_033239.1:g.46592_46593del

Select item 14915479872.

rs1491547987 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:11207597 (GRCh38)
1:11267654 (GRCh37)
Canonical SPDI:: NC_000001.11:11207596:CT:
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/4 (GnomAD)
HGVS:: NC_000001.11:g.11207597_11207598del, NC_000001.10:g.11267654_11267655del, NG_033239.1:g.59954_59955del

Select item 14915170273.

rs1491517027 has merged into rs138986986 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:11264096 (GRCh38)
1:11324153 (GRCh37)
Canonical SPDI:: NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11264085:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTOR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAA=0.4141/2074 (1000Genomes)
HGVS:: NC_000001.11:g.11264096_11264110del, NC_000001.11:g.11264097_11264110del, NC_000001.11:g.11264100_11264110del, NC_000001.11:g.11264101_11264110del, NC_000001.11:g.11264102_11264110del, NC_000001.11:g.11264103_11264110del, NC_000001.11:g.11264104_11264110del, NC_000001.11:g.11264105_11264110del, NC_000001.11:g.11264106_11264110del, NC_000001.11:g.11264107_11264110del, NC_000001.11:g.11264108_11264110del, NC_000001.11:g.11264109_11264110del, NC_000001.11:g.11264110del, NC_000001.11:g.11264110dup, NC_000001.11:g.11264109_11264110dup, NC_000001.11:g.11264108_11264110dup, NC_000001.11:g.11264107_11264110dup, NC_000001.11:g.11264106_11264110dup, NC_000001.11:g.11264105_11264110dup, NC_000001.11:g.11264104_11264110dup, NC_000001.11:g.11264103_11264110dup, NC_000001.11:g.11264102_11264110dup, NC_000001.11:g.11264099_11264110dup, NC_000001.10:g.11324153_11324167del, NC_000001.10:g.11324154_11324167del, NC_000001.10:g.11324157_11324167del, NC_000001.10:g.11324158_11324167del, NC_000001.10:g.11324159_11324167del, NC_000001.10:g.11324160_11324167del, NC_000001.10:g.11324161_11324167del, NC_000001.10:g.11324162_11324167del, NC_000001.10:g.11324163_11324167del, NC_000001.10:g.11324164_11324167del, NC_000001.10:g.11324165_11324167del, NC_000001.10:g.11324166_11324167del, NC_000001.10:g.11324167del, NC_000001.10:g.11324167dup, NC_000001.10:g.11324166_11324167dup, NC_000001.10:g.11324165_11324167dup, NC_000001.10:g.11324164_11324167dup, NC_000001.10:g.11324163_11324167dup, NC_000001.10:g.11324162_11324167dup, NC_000001.10:g.11324161_11324167dup, NC_000001.10:g.11324160_11324167dup, NC_000001.10:g.11324159_11324167dup, NC_000001.10:g.11324156_11324167dup, NG_033239.1:g.3452_3466del, NG_033239.1:g.3453_3466del, NG_033239.1:g.3456_3466del, NG_033239.1:g.3457_3466del, NG_033239.1:g.3458_3466del, NG_033239.1:g.3459_3466del, NG_033239.1:g.3460_3466del, NG_033239.1:g.3461_3466del, NG_033239.1:g.3462_3466del, NG_033239.1:g.3463_3466del, NG_033239.1:g.3464_3466del, NG_033239.1:g.3465_3466del, NG_033239.1:g.3466del, NG_033239.1:g.3466dup, NG_033239.1:g.3465_3466dup, NG_033239.1:g.3464_3466dup, NG_033239.1:g.3463_3466dup, NG_033239.1:g.3462_3466dup, NG_033239.1:g.3461_3466dup, NG_033239.1:g.3460_3466dup, NG_033239.1:g.3459_3466dup, NG_033239.1:g.3458_3466dup, NG_033239.1:g.3455_3466dup

Select item 14915024944.

rs1491502494 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 1:11239902 (GRCh38)
1:11299960 (GRCh37)
Canonical SPDI:: NC_000001.11:11239902:A:AGA
Gene:: MTOR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0.00354/395 (GnomAD)
HGVS:: NC_000001.11:g.11239903_11239904insGA, NC_000001.10:g.11299960_11299961insGA, NG_033239.1:g.27649_27650insCT

Select item 14915005735.

rs1491500573 has merged into rs796569153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:11243701 (GRCh38)
1:11303758 (GRCh37)
Canonical SPDI:: NC_000001.11:11243687:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:11243687:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:11243687:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:11243687:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.11243701_11243702del, NC_000001.11:g.11243702del, NC_000001.11:g.11243702dup, NC_000001.11:g.11243701_11243702dup, NC_000001.10:g.11303758_11303759del, NC_000001.10:g.11303759del, NC_000001.10:g.11303759dup, NC_000001.10:g.11303758_11303759dup, NG_033239.1:g.23863_23864del, NG_033239.1:g.23864del, NG_033239.1:g.23864dup, NG_033239.1:g.23863_23864dup

Select item 14914648726.

rs1491464872 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:11223331 (GRCh38)
1:11283388 (GRCh37)
Canonical SPDI:: NC_000001.11:11223329:TAT:T
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0.316107/1413 (ALFA)
TA=0.208613/3496 (TOMMO)
TA=0.265/159 (NorthernSweden)
TA=0.275/11 (GENOME_DK)
TA=0.313393/1404 (Estonian)
TA=0.38754/1437 (TWINSUK)
TA=0.390503/1505 (ALSPAC)
TA=0.473352/65991 (GnomAD)
TA=0.479076/3068 (1000Genomes)
HGVS:: NC_000001.11:g.11223331_11223332del, NC_000001.10:g.11283388_11283389del, NG_033239.1:g.44221_44222del

Select item 14914500207.

rs1491450020 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:11264085 (GRCh38)
1:11324142 (GRCh37)
Canonical SPDI:: NC_000001.11:11264084:CA:
Gene:: MTOR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.11264085_11264086del, NC_000001.10:g.11324142_11324143del, NG_033239.1:g.3466_3467del

Select item 14913693688.

rs1491369368 has merged into rs34258245 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:11111494 (GRCh38)
1:11171551 (GRCh37)
Canonical SPDI:: NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11111483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4062/2034 (1000Genomes)
HGVS:: NC_000001.11:g.11111494_11111499del, NC_000001.11:g.11111496_11111499del, NC_000001.11:g.11111497_11111499del, NC_000001.11:g.11111498_11111499del, NC_000001.11:g.11111499del, NC_000001.11:g.11111499dup, NC_000001.11:g.11111498_11111499dup, NC_000001.11:g.11111497_11111499dup, NC_000001.11:g.11111496_11111499dup, NC_000001.11:g.11111492_11111499dup, NC_000001.11:g.11111484_11111499dup, NC_000001.10:g.11171551_11171556del, NC_000001.10:g.11171553_11171556del, NC_000001.10:g.11171554_11171556del, NC_000001.10:g.11171555_11171556del, NC_000001.10:g.11171556del, NC_000001.10:g.11171556dup, NC_000001.10:g.11171555_11171556dup, NC_000001.10:g.11171554_11171556dup, NC_000001.10:g.11171553_11171556dup, NC_000001.10:g.11171549_11171556dup, NC_000001.10:g.11171541_11171556dup, NG_033239.1:g.156063_156068del, NG_033239.1:g.156065_156068del, NG_033239.1:g.156066_156068del, NG_033239.1:g.156067_156068del, NG_033239.1:g.156068del, NG_033239.1:g.156068dup, NG_033239.1:g.156067_156068dup, NG_033239.1:g.156066_156068dup, NG_033239.1:g.156065_156068dup, NG_033239.1:g.156061_156068dup, NG_033239.1:g.156053_156068dup

Select item 14913586099.

rs1491358609 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:11263535 (GRCh38)
1:11323592 (GRCh37)
Canonical SPDI:: NC_000001.11:11263534:AA:
Gene:: MTOR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00539/20 (TWINSUK)
-=0.00545/21 (ALSPAC)
HGVS:: NC_000001.11:g.11263535_11263536del, NC_000001.10:g.11323592_11323593del, NG_033239.1:g.4016_4017del

Select item 149134466910.

rs1491344669 has merged into rs34578052 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 1:11207610 (GRCh38)
1:11267667 (GRCh37)
Canonical SPDI:: NC_000001.11:11207597:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:11207597:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:11207597:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:11207597:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:11207597:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:11207597:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:11207597:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:11207597:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:11207597:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1767/681 (ALSPAC)
T=0.3049/1527 (1000Genomes)
HGVS:: NC_000001.11:g.11207610_11207615del, NC_000001.11:g.11207611_11207615del, NC_000001.11:g.11207612_11207615del, NC_000001.11:g.11207613_11207615del, NC_000001.11:g.11207614_11207615del, NC_000001.11:g.11207615del, NC_000001.11:g.11207615dup, NC_000001.11:g.11207614_11207615dup, NC_000001.11:g.11207613_11207615dup, NC_000001.10:g.11267667_11267672del, NC_000001.10:g.11267668_11267672del, NC_000001.10:g.11267669_11267672del, NC_000001.10:g.11267670_11267672del, NC_000001.10:g.11267671_11267672del, NC_000001.10:g.11267672del, NC_000001.10:g.11267672dup, NC_000001.10:g.11267671_11267672dup, NC_000001.10:g.11267670_11267672dup, NG_033239.1:g.59949_59954del, NG_033239.1:g.59950_59954del, NG_033239.1:g.59951_59954del, NG_033239.1:g.59952_59954del, NG_033239.1:g.59953_59954del, NG_033239.1:g.59954del, NG_033239.1:g.59954dup, NG_033239.1:g.59953_59954dup, NG_033239.1:g.59952_59954dup

Select item 149132267711.

rs1491322677 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:11164334 (GRCh38)
1:11224391 (GRCh37)
Canonical SPDI:: NC_000001.11:11164333:GA:
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00023/4 (TOMMO)
HGVS:: NC_000001.11:g.11164334_11164335del, NC_000001.10:g.11224391_11224392del, NG_033239.1:g.103217_103218del

Select item 149129777712.

rs1491297777 has merged into rs56098089 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 1:11140995 (GRCh38)
1:11201052 (GRCh37)
Canonical SPDI:: NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:11140983:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.11140995_11140999del, NC_000001.11:g.11140996_11140999del, NC_000001.11:g.11140997_11140999del, NC_000001.11:g.11140998_11140999del, NC_000001.11:g.11140999del, NC_000001.11:g.11140999dup, NC_000001.11:g.11140998_11140999dup, NC_000001.11:g.11140997_11140999dup, NC_000001.11:g.11140996_11140999dup, NC_000001.11:g.11140994_11140999dup, NC_000001.10:g.11201052_11201056del, NC_000001.10:g.11201053_11201056del, NC_000001.10:g.11201054_11201056del, NC_000001.10:g.11201055_11201056del, NC_000001.10:g.11201056del, NC_000001.10:g.11201056dup, NC_000001.10:g.11201055_11201056dup, NC_000001.10:g.11201054_11201056dup, NC_000001.10:g.11201053_11201056dup, NC_000001.10:g.11201051_11201056dup, NG_033239.1:g.126564_126568del, NG_033239.1:g.126565_126568del, NG_033239.1:g.126566_126568del, NG_033239.1:g.126567_126568del, NG_033239.1:g.126568del, NG_033239.1:g.126568dup, NG_033239.1:g.126567_126568dup, NG_033239.1:g.126566_126568dup, NG_033239.1:g.126565_126568dup, NG_033239.1:g.126563_126568dup

Select item 149128103913.

rs1491281039 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:11140984 (GRCh38)
1:11201042 (GRCh37)
Canonical SPDI:: NC_000001.11:11140984::C
Gene:: MTOR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000039/1 (GnomAD)
HGVS:: NC_000001.11:g.11140984_11140985insC, NC_000001.10:g.11201041_11201042insC, NG_033239.1:g.126567_126568insG

Select item 149125121414.

rs1491251214 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:11238767 (GRCh38)
1:11298825 (GRCh37)
Canonical SPDI:: NC_000001.11:11238767::C
Gene:: MTOR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000001.11:g.11238767_11238768insC, NC_000001.10:g.11298824_11298825insC, NG_033239.1:g.28784_28785insG

Select item 149119321915.

rs1491193219 has merged into rs35144517 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:11238777 (GRCh38)
1:11298834 (GRCh37)
Canonical SPDI:: NC_000001.11:11238766:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:11238766:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:11238766:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:11238766:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:11238766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:11238766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:11238766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: MTOR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.4405/2206 (1000Genomes)
HGVS:: NC_000001.11:g.11238777_11238780del, NC_000001.11:g.11238778_11238780del, NC_000001.11:g.11238779_11238780del, NC_000001.11:g.11238780del, NC_000001.11:g.11238780dup, NC_000001.11:g.11238779_11238780dup, NC_000001.11:g.11238777_11238780dup, NC_000001.10:g.11298834_11298837del, NC_000001.10:g.11298835_11298837del, NC_000001.10:g.11298836_11298837del, NC_000001.10:g.11298837del, NC_000001.10:g.11298837dup, NC_000001.10:g.11298836_11298837dup, NC_000001.10:g.11298834_11298837dup, NG_033239.1:g.28782_28785del, NG_033239.1:g.28783_28785del, NG_033239.1:g.28784_28785del, NG_033239.1:g.28785del, NG_033239.1:g.28785dup, NG_033239.1:g.28784_28785dup, NG_033239.1:g.28782_28785dup

Select item 149118391116.

rs1491183911 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:11112379 (GRCh38)
1:11172437 (GRCh37)
Canonical SPDI:: NC_000001.11:11112379:A:AA
Gene:: MTOR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000142/2 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.11112380dup, NC_000001.10:g.11172437dup, NG_033239.1:g.155172dup

Select item 149117123617.

rs1491171236 has merged into rs60096418 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 1:11180794 (GRCh38)
1:11240851 (GRCh37)
Canonical SPDI:: NC_000001.11:11180781:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:11180781:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:11180781:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:11180781:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:11180781:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:11180781:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.11180794_11180797del, NC_000001.11:g.11180795_11180797del, NC_000001.11:g.11180796_11180797del, NC_000001.11:g.11180797del, NC_000001.11:g.11180797dup, NC_000001.11:g.11180796_11180797dup, NC_000001.10:g.11240851_11240854del, NC_000001.10:g.11240852_11240854del, NC_000001.10:g.11240853_11240854del, NC_000001.10:g.11240854del, NC_000001.10:g.11240854dup, NC_000001.10:g.11240853_11240854dup, NG_033239.1:g.86767_86770del, NG_033239.1:g.86768_86770del, NG_033239.1:g.86769_86770del, NG_033239.1:g.86770del, NG_033239.1:g.86770dup, NG_033239.1:g.86769_86770dup

Select item 149115247818.

rs1491152478 has merged into rs547043272 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:11164350 (GRCh38)
1:11224407 (GRCh37)
Canonical SPDI:: NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11164334:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTOR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1386/694 (1000Genomes)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000001.11:g.11164350_11164354del, NC_000001.11:g.11164351_11164354del, NC_000001.11:g.11164352_11164354del, NC_000001.11:g.11164353_11164354del, NC_000001.11:g.11164354del, NC_000001.11:g.11164354dup, NC_000001.11:g.11164353_11164354dup, NC_000001.11:g.11164352_11164354dup, NC_000001.11:g.11164351_11164354dup, NC_000001.11:g.11164350_11164354dup, NC_000001.11:g.11164349_11164354dup, NC_000001.11:g.11164348_11164354dup, NC_000001.11:g.11164347_11164354dup, NC_000001.11:g.11164346_11164354dup, NC_000001.11:g.11164345_11164354dup, NC_000001.10:g.11224407_11224411del, NC_000001.10:g.11224408_11224411del, NC_000001.10:g.11224409_11224411del, NC_000001.10:g.11224410_11224411del, NC_000001.10:g.11224411del, NC_000001.10:g.11224411dup, NC_000001.10:g.11224410_11224411dup, NC_000001.10:g.11224409_11224411dup, NC_000001.10:g.11224408_11224411dup, NC_000001.10:g.11224407_11224411dup, NC_000001.10:g.11224406_11224411dup, NC_000001.10:g.11224405_11224411dup, NC_000001.10:g.11224404_11224411dup, NC_000001.10:g.11224403_11224411dup, NC_000001.10:g.11224402_11224411dup, NG_033239.1:g.103213_103217del, NG_033239.1:g.103214_103217del, NG_033239.1:g.103215_103217del, NG_033239.1:g.103216_103217del, NG_033239.1:g.103217del, NG_033239.1:g.103217dup, NG_033239.1:g.103216_103217dup, NG_033239.1:g.103215_103217dup, NG_033239.1:g.103214_103217dup, NG_033239.1:g.103213_103217dup, NG_033239.1:g.103212_103217dup, NG_033239.1:g.103211_103217dup, NG_033239.1:g.103210_103217dup, NG_033239.1:g.103209_103217dup, NG_033239.1:g.103208_103217dup

Select item 149113022719.

rs1491130227 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 149110500920.

rs1491105009 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 1:11257567 (GRCh38)
1:11317625 (GRCh37)
Canonical SPDI:: NC_000001.11:11257567::TTT
Gene:: MTOR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000001.11:g.11257567_11257568insTTT, NC_000001.10:g.11317624_11317625insTTT, NG_033239.1:g.9984_9985insAAA

<< First< Prev

Page of 1801

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 36005

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity