Links from Gene
Items: 1 to 20 of 4848
1.
rs1491475010 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 19:46619604
(GRCh38)
19:47122861
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46619603:GG:
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.01052/39
(TWINSUK)
-=0.0109/42
(ALSPAC)
- HGVS:
2.
rs1491455778 has merged into rs201900456 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:46622991
(GRCh38)
19:47126248
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.15667/94
(NorthernSweden)
- HGVS:
NC_000019.10:g.46622991_46622999del, NC_000019.10:g.46622992_46622999del, NC_000019.10:g.46622993_46622999del, NC_000019.10:g.46622994_46622999del, NC_000019.10:g.46622995_46622999del, NC_000019.10:g.46622996_46622999del, NC_000019.10:g.46622997_46622999del, NC_000019.10:g.46622998_46622999del, NC_000019.10:g.46622999del, NC_000019.10:g.46622999dup, NC_000019.10:g.46622998_46622999dup, NC_000019.10:g.46622997_46622999dup, NC_000019.10:g.46622995_46622999dup, NC_000019.10:g.46622981_46622999dup, NC_000019.9:g.47126248_47126256del, NC_000019.9:g.47126249_47126256del, NC_000019.9:g.47126250_47126256del, NC_000019.9:g.47126251_47126256del, NC_000019.9:g.47126252_47126256del, NC_000019.9:g.47126253_47126256del, NC_000019.9:g.47126254_47126256del, NC_000019.9:g.47126255_47126256del, NC_000019.9:g.47126256del, NC_000019.9:g.47126256dup, NC_000019.9:g.47126255_47126256dup, NC_000019.9:g.47126254_47126256dup, NC_000019.9:g.47126252_47126256dup, NC_000019.9:g.47126238_47126256dup
4.
rs1491244118 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 19:46622981
(GRCh38)
19:47126239
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46622981:T:TAT
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0./0
(
ALFA)
TA=0.00214/153
(GnomAD)
- HGVS:
5.
rs1491180778 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:46619546
(GRCh38)
19:47122804
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46619546::G
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00004/1
(TOMMO)
G=0.00097/54
(GnomAD)
- HGVS:
6.
rs1491139508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAAAGAAAGAA
[Show Flanks]
- Chromosome:
- 19:46619640
(GRCh38)
19:47122898
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46619640:GAAAGAAAGAA:GAAAGAAAGAAGGAAAGAAAGAA
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAAAGAAAGAAGGAAAGAAAGAA=0./0
(
ALFA)
GAAAGAAAGAAG=0.000047/6
(GnomAD)
- HGVS:
7.
rs1491064727 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:46619518
(GRCh38)
19:47122776
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46619518::G
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00026/4
(TOMMO)
G=0.00174/3
(Korea1K)
G=0.01027/6
(NorthernSweden)
- HGVS:
8.
rs1491026328 has merged into rs56961349 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:46618028
(GRCh38)
19:47121285
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.03/18
(NorthernSweden)
- HGVS:
NC_000019.10:g.46618028_46618032del, NC_000019.10:g.46618029_46618032del, NC_000019.10:g.46618030_46618032del, NC_000019.10:g.46618031_46618032del, NC_000019.10:g.46618032del, NC_000019.10:g.46618032dup, NC_000019.10:g.46618031_46618032dup, NC_000019.10:g.46618030_46618032dup, NC_000019.10:g.46618029_46618032dup, NC_000019.10:g.46618028_46618032dup, NC_000019.10:g.46618027_46618032dup, NC_000019.10:g.46618026_46618032dup, NC_000019.10:g.46618024_46618032dup, NC_000019.10:g.46618023_46618032dup, NC_000019.9:g.47121285_47121289del, NC_000019.9:g.47121286_47121289del, NC_000019.9:g.47121287_47121289del, NC_000019.9:g.47121288_47121289del, NC_000019.9:g.47121289del, NC_000019.9:g.47121289dup, NC_000019.9:g.47121288_47121289dup, NC_000019.9:g.47121287_47121289dup, NC_000019.9:g.47121286_47121289dup, NC_000019.9:g.47121285_47121289dup, NC_000019.9:g.47121284_47121289dup, NC_000019.9:g.47121283_47121289dup, NC_000019.9:g.47121281_47121289dup, NC_000019.9:g.47121280_47121289dup
9.
rs1490863573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:46618971
(GRCh38)
19:47122228
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46618970:T:C
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490858818 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGAAAGAAA>-
[Show Flanks]
- Chromosome:
- 19:46619539
(GRCh38)
19:47122796
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46619537:AAAGAAAGAAA:A
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00034/4
(
ALFA)
-=0.00448/236
(GnomAD)
-=0.00626/11
(Korea1K)
-=0.01505/230
(TOMMO)
- HGVS:
11.
rs1490591790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:46612151
(GRCh38)
19:47115408
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46612150:G:T
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490438574 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TTTTG>-
[Show Flanks]
- Chromosome:
- 19:46613057
(GRCh38)
19:47116314
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46613056:TTTTG:
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00169/46
(TOMMO)
- HGVS:
14.
rs1490241836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:46622615
(GRCh38)
19:47125872
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46622614:T:C
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490162149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:46626228
(GRCh38)
19:47129485
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46626227:T:C
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489989429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:46610554
(GRCh38)
19:47113811
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46610553:A:G
- Gene:
- CALM3 (Varview), PTGIR (Varview), LOC124904729 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000216/4
(
ALFA)
G=0.000047/6
(GnomAD)
G=0.00067/3
(Estonian)
- HGVS:
NC_000019.10:g.46610554A>G, NC_000019.9:g.47113811A>G, NG_051331.1:g.14481A>G, NM_005184.4:c.*1401A>G, NM_005184.3:c.*1401A>G, NM_005184.2:c.*1401A>G, NM_001329924.2:c.*1401A>G, NM_001329924.1:c.*1401A>G, NM_001329926.2:c.*1401A>G, NM_001329926.1:c.*1401A>G, NM_001329925.2:c.*1401A>G, NM_001329925.1:c.*1401A>G, NM_001329922.1:c.*1401A>G, NM_001329921.1:c.*1401A>G, NM_001329923.1:c.*1401A>G
18.
rs1489817295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:46624499
(GRCh38)
19:47127756
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46624498:G:A
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489708305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:46617337
(GRCh38)
19:47120594
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46617336:T:C
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
20.
rs1489635976 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GAGAG>-
[Show Flanks]
- Chromosome:
- 19:46619579
(GRCh38)
19:47122836
(GRCh37)
- Canonical SPDI:
- NC_000019.10:46619578:GAGAG:
- Gene:
- PTGIR (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00059/7
(
ALFA)
-=0.0006/61
(GnomAD)
-=0.014385/240
(TOMMO)
- HGVS: