SNP Links for PubMed (Select 24824130) - SNP - NCBI

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Links from PubMed

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Select item 8693129001.

rs869312900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:40134228 (GRCh38)
7:40173827 (GRCh37)
Canonical SPDI:: NC_000007.14:40134227:C:A,NC_000007.14:40134227:C:T
Gene:: SUGCT (Varview), MPLKIP (Varview)
Functional Consequence:: 2KB_upstream_variant,splice_donor_variant,upstream_transcript_variant
Clinical significance:: pathogenic
Validated:: by cluster
HGVS:: NC_000007.14:g.40134228C>A, NC_000007.14:g.40134228C>T, NC_000007.13:g.40173827C>A, NC_000007.13:g.40173827C>T, NG_023422.2:g.4253C>A, NG_023422.2:g.4253C>T, NG_016989.2:g.5425G>T, NG_016989.2:g.5425G>A

Select item 8693127492.

rs869312749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:10224583 (GRCh38)
19:10335259 (GRCh37)
Canonical SPDI:: NC_000019.10:10224582:C:G,NC_000019.10:10224582:C:T
Gene:: S1PR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.10224583C>G, NC_000019.10:g.10224583C>T, NC_000019.9:g.10335259C>G, NC_000019.9:g.10335259C>T, NG_028016.3:g.11704G>C, NG_028016.3:g.11704G>A, NG_046802.1:g.12225G>C, NG_046802.1:g.12225G>A, NM_004230.4:c.323G>C, NM_004230.4:c.323G>A, NM_004230.3:c.323G>C, NM_004230.3:c.323G>A, NP_004221.3:p.Arg108Pro, NP_004221.3:p.Arg108Gln

Select item 8632249553.

rs863224955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8874495 (GRCh38)
12:9027091 (GRCh37)
Canonical SPDI:: NC_000012.12:8874494:C:T
Gene:: A2ML1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000012.12:g.8874495C>T, NC_000012.11:g.9027091C>T, NG_042857.1:g.57024C>T, NM_144670.6:c.4292C>T, NM_144670.5:c.4292C>T, NM_144670.4:c.4292C>T, NM_001282424.3:c.2819C>T, NM_001282424.2:c.2819C>T, NM_001282424.1:c.2819C>T, XM_011520566.3:c.4331C>T, XM_011520566.2:c.4331C>T, XM_011520566.1:c.4331C>T, XM_011520567.3:c.4331C>T, XM_011520567.2:c.4331C>T, XM_011520567.1:c.4331C>T, XR_931275.2:n.4362C>T, XR_931275.1:n.4429C>T, XR_001748594.2:n.4323C>T, XR_001748594.1:n.4390C>T, XM_017018869.2:c.4328C>T, XM_017018869.1:c.4328C>T, XM_017018870.2:c.4292C>T, XM_017018870.1:c.4292C>T, XM_047428387.1:c.4289C>T, NR_046256.1:n.2987C>T, NP_653271.3:p.Ala1431Val, NP_001269353.2:p.Ala940Val, XP_011518868.1:p.Ala1444Val, XP_011518869.1:p.Ala1444Val, XP_016874358.1:p.Ala1443Val, XP_016874359.1:p.Ala1431Val, XP_047284343.1:p.Ala1430Val

Select item 8632249544.

rs863224954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8851977 (GRCh38)
12:9004573 (GRCh37)
Canonical SPDI:: NC_000012.12:8851976:G:A
Gene:: A2ML1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000012.12:g.8851977G>A, NC_000012.11:g.9004573G>A, NG_042857.1:g.34506G>A, NM_144670.6:c.2428G>A, NM_144670.5:c.2428G>A, NM_144670.4:c.2428G>A, NM_001282424.3:c.955G>A, NM_001282424.2:c.955G>A, NM_001282424.1:c.955G>A, XM_011520566.3:c.2467G>A, XM_011520566.2:c.2467G>A, XM_011520566.1:c.2467G>A, XM_011520567.3:c.2467G>A, XM_011520567.2:c.2467G>A, XM_011520567.1:c.2467G>A, XR_931275.2:n.2498G>A, XR_931275.1:n.2565G>A, XR_001748594.2:n.2459G>A, XR_001748594.1:n.2526G>A, XM_017018869.2:c.2464G>A, XM_017018869.1:c.2464G>A, XM_017018870.2:c.2428G>A, XM_017018870.1:c.2428G>A, XM_047428387.1:c.2425G>A, NR_046256.1:n.1123G>A, NP_653271.3:p.Ala810Thr, NP_001269353.2:p.Ala319Thr, XP_011518868.1:p.Ala823Thr, XP_011518869.1:p.Ala823Thr, XP_016874358.1:p.Ala822Thr, XP_016874359.1:p.Ala810Thr, XP_047284343.1:p.Ala809Thr

Select item 8632249535.

rs863224953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:8839209 (GRCh38)
12:8991805 (GRCh37)
Canonical SPDI:: NC_000012.12:8839208:C:G
Gene:: A2ML1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000012.12:g.8839209C>G, NC_000012.11:g.8991805C>G, NG_042857.1:g.21738C>G, NM_144670.6:c.1067C>G, NM_144670.5:c.1067C>G, NM_144670.4:c.1067C>G, XM_011520566.3:c.1067C>G, XM_011520566.2:c.1067C>G, XM_011520566.1:c.1067C>G, XM_011520567.3:c.1067C>G, XM_011520567.2:c.1067C>G, XM_011520567.1:c.1067C>G, XR_931275.2:n.1098C>G, XR_931275.1:n.1165C>G, XR_001748594.2:n.1098C>G, XR_001748594.1:n.1165C>G, XM_017018869.2:c.1067C>G, XM_017018869.1:c.1067C>G, XM_017018870.2:c.1067C>G, XM_017018870.1:c.1067C>G, XM_047428387.1:c.1067C>G, NP_653271.3:p.Pro356Arg, XP_011518868.1:p.Pro356Arg, XP_011518869.1:p.Pro356Arg, XP_016874358.1:p.Pro356Arg, XP_016874359.1:p.Pro356Arg, XP_047284343.1:p.Pro356Arg

Select item 8632249526.

rs863224952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8837474 (GRCh38)
12:8990070 (GRCh37)
Canonical SPDI:: NC_000012.12:8837473:C:T
Gene:: A2ML1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.8837474C>T, NC_000012.11:g.8990070C>T, NG_042857.1:g.20003C>T, NM_144670.6:c.763C>T, NM_144670.5:c.763C>T, NM_144670.4:c.763C>T, XM_011520566.3:c.763C>T, XM_011520566.2:c.763C>T, XM_011520566.1:c.763C>T, XM_011520567.3:c.763C>T, XM_011520567.2:c.763C>T, XM_011520567.1:c.763C>T, XR_931275.2:n.794C>T, XR_931275.1:n.861C>T, XR_001748594.2:n.794C>T, XR_001748594.1:n.861C>T, XM_017018869.2:c.763C>T, XM_017018869.1:c.763C>T, XM_017018870.2:c.763C>T, XM_017018870.1:c.763C>T, XM_047428387.1:c.763C>T, NP_653271.3:p.Gln255Ter, XP_011518868.1:p.Gln255Ter, XP_011518869.1:p.Gln255Ter, XP_016874358.1:p.Gln255Ter, XP_016874359.1:p.Gln255Ter, XP_047284343.1:p.Gln255Ter

Select item 8632249517.

rs863224951 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCTAAAT [Show Flanks]
Chromosome:: 12:8852222 (GRCh38)
12:9004819 (GRCh37)
Canonical SPDI:: NC_000012.12:8852222:TGGCTAAAT:TGGCTAAATGGCTAAAT
Gene:: A2ML1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Clinical significance:: risk-factor,pathogenic
HGVS:: NC_000012.12:g.8852224_8852231dup, NC_000012.11:g.9004820_9004827dup, NG_042857.1:g.34753_34760dup, NM_144670.6:c.2478_2485dup, NM_144670.5:c.2478_2485dup, NM_144670.4:c.2478_2485dup, NM_001282424.3:c.1005_1012dup, NM_001282424.2:c.1005_1012dup, NM_001282424.1:c.1005_1012dup, XM_011520566.3:c.2517_2524dup, XM_011520566.2:c.2517_2524dup, XM_011520566.1:c.2517_2524dup, XM_011520567.3:c.2517_2524dup, XM_011520567.2:c.2517_2524dup, XM_011520567.1:c.2517_2524dup, XR_931275.2:n.2548_2555dup, XR_931275.1:n.2615_2622dup, XR_001748594.2:n.2509_2516dup, XR_001748594.1:n.2576_2583dup, XM_017018869.2:c.2514_2521dup, XM_017018869.1:c.2514_2521dup, XM_017018870.2:c.2478_2485dup, XM_017018870.1:c.2478_2485dup, XM_047428387.1:c.2475_2482dup, NR_046256.1:n.1173_1180dup, NP_653271.3:p.Ser829fs, NP_001269353.2:p.Ser338fs, XP_011518868.1:p.Ser842fs, XP_011518869.1:p.Ser842fs, XP_016874358.1:p.Ser841fs, XP_016874359.1:p.Ser829fs, XP_047284343.1:p.Ser828fs

Select item 8632234058.

rs863223405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24258324 (GRCh38)
14:24727530 (GRCh37)
Canonical SPDI:: NC_000014.9:24258323:A:G
Gene:: TGM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic,pathogenic
HGVS:: NC_000014.9:g.24258324A>G, NG_007150.2:g.9843T>C, NM_000359.3:c.1363T>C, NM_000359.2:c.1363T>C, NW_018654722.1:g.559302A>G, NC_000014.8:g.24727530A>G, NP_000350.1:p.Trp455Arg

Select item 7796924709.

rs779692470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:160172592 (GRCh38)
2:161029103 (GRCh37)
Canonical SPDI:: NC_000002.12:160172591:C:T
Gene:: ITGB6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by cluster
MAF:: T=0.000028/7 (GnomAD_exomes)
T=0.000033/4 (ExAC)
HGVS:: NC_000002.12:g.160172592C>T, NC_000002.11:g.161029103C>T, NG_042041.1:g.32722G>A, NM_000888.5:c.898G>A, NM_000888.4:c.898G>A, NM_000888.3:c.898G>A, NM_001282388.2:c.772G>A, NM_001282388.1:c.772G>A, NM_001282353.2:c.898G>A, NM_001282353.1:c.898G>A, NM_001282389.2:c.679G>A, NM_001282389.1:c.679G>A, NM_001282390.2:c.484G>A, NM_001282390.1:c.484G>A, NM_001282354.2:c.613G>A, NM_001282354.1:c.613G>A, NM_001282355.2:c.898G>A, NM_001282355.1:c.898G>A, NP_000879.2:p.Glu300Lys, NP_001269317.1:p.Glu258Lys, NP_001269282.1:p.Glu300Lys, NP_001269318.1:p.Glu227Lys, NP_001269319.1:p.Glu162Lys, NP_001269283.1:p.Glu205Lys, NP_001269284.1:p.Glu300Lys

Select item 76678318310.

rs766783183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40750961 (GRCh38)
17:38907213 (GRCh37)
Canonical SPDI:: NC_000017.11:40750960:A:G
Gene:: KRT25 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000025/3 (ExAC)
G=0.000036/9 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40750961A>G, NC_000017.10:g.38907213A>G, NG_012414.1:g.9372T>C, NM_181534.4:c.950T>C, NM_181534.3:c.950T>C, XM_011524414.2:c.944T>C, XM_011524414.1:c.944T>C, NP_853512.1:p.Leu317Pro, XP_011522716.1:p.Leu315Pro

Select item 76054556211.

rs760545562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:8857229 (GRCh38)
12:9009825 (GRCh37)
Canonical SPDI:: NC_000012.12:8857228:G:A,NC_000012.12:8857228:G:T
Gene:: A2ML1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000017/2 (ExAC)
A=0.000684/2 (KOREAN)
A=0.003289/1 (FINRISK)
HGVS:: NC_000012.12:g.8857229G>A, NC_000012.12:g.8857229G>T, NC_000012.11:g.9009825G>A, NC_000012.11:g.9009825G>T, NG_042857.1:g.39758G>A, NG_042857.1:g.39758G>T, NM_144670.6:c.2914G>A, NM_144670.6:c.2914G>T, NM_144670.5:c.2914G>A, NM_144670.5:c.2914G>T, NM_144670.4:c.2914G>A, NM_144670.4:c.2914G>T, NM_001282424.3:c.1441G>A, NM_001282424.3:c.1441G>T, NM_001282424.2:c.1441G>A, NM_001282424.2:c.1441G>T, NM_001282424.1:c.1441G>A, NM_001282424.1:c.1441G>T, XM_011520566.3:c.2953G>A, XM_011520566.3:c.2953G>T, XM_011520566.2:c.2953G>A, XM_011520566.2:c.2953G>T, XM_011520566.1:c.2953G>A, XM_011520566.1:c.2953G>T, XM_011520567.3:c.2953G>A, XM_011520567.3:c.2953G>T, XM_011520567.2:c.2953G>A, XM_011520567.2:c.2953G>T, XM_011520567.1:c.2953G>A, XM_011520567.1:c.2953G>T, XR_931275.2:n.2984G>A, XR_931275.2:n.2984G>T, XR_931275.1:n.3051G>A, XR_931275.1:n.3051G>T, XR_001748594.2:n.2945G>A, XR_001748594.2:n.2945G>T, XR_001748594.1:n.3012G>A, XR_001748594.1:n.3012G>T, XM_017018869.2:c.2950G>A, XM_017018869.2:c.2950G>T, XM_017018869.1:c.2950G>A, XM_017018869.1:c.2950G>T, XM_017018870.2:c.2914G>A, XM_017018870.2:c.2914G>T, XM_017018870.1:c.2914G>A, XM_017018870.1:c.2914G>T, XM_047428387.1:c.2911G>A, XM_047428387.1:c.2911G>T, NR_046256.1:n.1609G>A, NR_046256.1:n.1609G>T, NP_653271.3:p.Glu972Lys, NP_653271.3:p.Glu972Ter, NP_001269353.2:p.Glu481Lys, NP_001269353.2:p.Glu481Ter, XP_011518868.1:p.Glu985Lys, XP_011518868.1:p.Glu985Ter, XP_011518869.1:p.Glu985Lys, XP_011518869.1:p.Glu985Ter, XP_016874358.1:p.Glu984Lys, XP_016874358.1:p.Glu984Ter, XP_016874359.1:p.Glu972Lys, XP_016874359.1:p.Glu972Ter, XP_047284343.1:p.Glu971Lys, XP_047284343.1:p.Glu971Ter

Select item 58777749712.

rs587777497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:45713747 (GRCh38)
7:45753346 (GRCh37)
Canonical SPDI:: NC_000007.14:45713746:C:T
Gene:: ADCY1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: pathogenic
HGVS:: NC_000007.14:g.45713747C>T, NC_000007.13:g.45753346C>T, NG_034198.1:g.144608C>T, NM_021116.4:c.3112C>T, NM_021116.3:c.3112C>T, NM_021116.2:c.3112C>T, XM_005249584.4:c.*47C>T, XM_005249584.3:c.*47C>T, XM_005249584.2:c.*47C>T, XM_005249584.1:c.*47C>T, NP_066939.1:p.Arg1038Ter

Select item 58777714713.

rs587777147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:2496356 (GRCh38)
16:2546357 (GRCh37)
Canonical SPDI:: NC_000016.10:2496355:G:T
Gene:: TBC1D24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (PAGE_STUDY)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2496356G>T, NC_000016.9:g.2546357G>T, NG_028170.1:g.26211G>T, NM_020705.3:c.208G>T, NM_020705.2:c.208G>T, NM_001199107.2:c.208G>T, NM_001199107.1:c.208G>T, XM_017023494.2:c.208G>T, XM_017023494.1:c.208G>T, XM_017023493.2:c.208G>T, XM_017023493.1:c.208G>T, XM_017023495.2:c.208G>T, XM_017023495.1:c.208G>T, XM_047434388.1:c.208G>T, NP_065756.1:p.Asp70Tyr, NP_001186036.1:p.Asp70Tyr, XP_016878983.1:p.Asp70Tyr, XP_016878982.1:p.Asp70Tyr, XP_016878984.1:p.Asp70Tyr, XP_047290344.1:p.Asp70Tyr

Select item 39812303514.

rs398123035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:6361944 (GRCh38)
19:6361955 (GRCh37)
Canonical SPDI:: NC_000019.10:6361943:A:G
Gene:: CLPP (Varview), ACER1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/3 (PAGE_STUDY)
HGVS:: NC_000019.10:g.6361944A>G, NC_000019.9:g.6361955A>G, NG_033887.1:g.5493A>G

Select item 39812303415.

rs398123034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:6364524 (GRCh38)
19:6364535 (GRCh37)
Canonical SPDI:: NC_000019.10:6364523:G:A,NC_000019.10:6364523:G:C
Gene:: CLPP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
C=0.000013/1 (PAGE_STUDY)
A=0.000019/2 (ExAC)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.6364524G>A, NC_000019.10:g.6364524G>C, NC_000019.9:g.6364535G>A, NC_000019.9:g.6364535G>C, NG_033887.1:g.8073G>A, NG_033887.1:g.8073G>C, NM_006012.4:c.440G>A, NM_006012.4:c.440G>C, NM_006012.3:c.440G>A, NM_006012.3:c.440G>C, NM_006012.2:c.440G>A, NM_006012.2:c.440G>C, XM_047439486.1:c.536G>A, XM_047439486.1:c.536G>C, NP_006003.1:p.Cys147Tyr, NP_006003.1:p.Cys147Ser, XP_047295442.1:p.Cys179Tyr, XP_047295442.1:p.Cys179Ser

Select item 39812303316.

rs398123033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:6364517 (GRCh38)
19:6364528 (GRCh37)
Canonical SPDI:: NC_000019.10:6364516:A:C,NC_000019.10:6364516:A:G
Gene:: CLPP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (PAGE_STUDY)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6364517A>C, NC_000019.10:g.6364517A>G, NC_000019.9:g.6364528A>C, NC_000019.9:g.6364528A>G, NG_033887.1:g.8066A>C, NG_033887.1:g.8066A>G, NM_006012.4:c.433A>C, NM_006012.4:c.433A>G, NM_006012.3:c.433A>C, NM_006012.3:c.433A>G, NM_006012.2:c.433A>C, NM_006012.2:c.433A>G, XM_047439486.1:c.529A>C, XM_047439486.1:c.529A>G, NP_006003.1:p.Thr145Pro, NP_006003.1:p.Thr145Ala, XP_047295442.1:p.Thr177Pro, XP_047295442.1:p.Thr177Ala

Select item 39751474617.

rs397514746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:75631726 (GRCh38)
16:75665624 (GRCh37)
Canonical SPDI:: NC_000016.10:75631725:C:T
Gene:: KARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000069/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.75631726C>T, NC_000016.9:g.75665624C>T, NG_028025.1:g.20962G>A, NM_005548.3:c.1045G>A, NM_005548.2:c.1045G>A, NM_001130089.2:c.1129G>A, NM_001130089.1:c.1129G>A, NM_001378148.1:c.577G>A, NP_005539.1:p.Asp349Asn, NP_001123561.1:p.Asp377Asn, NP_001365077.1:p.Asp193Asn

Select item 39751474518.

rs397514745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:75636503 (GRCh38)
16:75670401 (GRCh37)
Canonical SPDI:: NC_000016.10:75636502:A:G
Gene:: KARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000025/3 (ExAC)
G=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75636503A>G, NC_000016.9:g.75670401A>G, NG_028025.1:g.16185T>C, NM_005548.3:c.433T>C, NM_005548.2:c.433T>C, NM_001130089.2:c.517T>C, NM_001130089.1:c.517T>C, NM_001378148.1:c.-36T>C, NP_005539.1:p.Tyr145His, NP_001123561.1:p.Tyr173His

Select item 37003187019.

rs370031870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:8115623 (GRCh38)
17:8018941 (GRCh37)
Canonical SPDI:: NC_000017.11:8115622:G:A,NC_000017.11:8115622:G:T
Gene:: ALOXE3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,stop_gained
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/2 (ALFA)
A=0./0 (PAGE_STUDY)
A=0.000008/1 (ExAC)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000077/1 (GoESP)
HGVS:: NC_000017.11:g.8115623G>A, NC_000017.11:g.8115623G>T, NC_000017.10:g.8018941G>A, NC_000017.10:g.8018941G>T, NG_015807.1:g.8294C>T, NG_015807.1:g.8294C>A, NM_021628.3:c.418C>T, NM_021628.3:c.418C>A, NM_021628.2:c.418C>T, NM_021628.2:c.418C>A, NM_001165960.1:c.814C>T, NM_001165960.1:c.814C>A, NM_001369446.1:c.418C>T, NM_001369446.1:c.418C>A, XM_017024921.3:c.418C>T, XM_017024921.3:c.418C>A, XM_017024921.2:c.418C>T, XM_017024921.2:c.418C>A, XM_017024921.1:c.418C>T, XM_017024921.1:c.418C>A, XM_017024923.3:c.418C>T, XM_017024923.3:c.418C>A, XM_017024923.2:c.418C>T, XM_017024923.2:c.418C>A, XM_017024923.1:c.418C>T, XM_017024923.1:c.418C>A, XM_017024922.3:c.418C>T, XM_017024922.3:c.418C>A, XM_017024922.2:c.418C>T, XM_017024922.2:c.418C>A, XM_017024922.1:c.418C>T, XM_017024922.1:c.418C>A, XM_017024924.3:c.418C>T, XM_017024924.3:c.418C>A, XM_017024924.2:c.418C>T, XM_017024924.2:c.418C>A, XM_017024924.1:c.418C>T, XM_017024924.1:c.418C>A, XM_017024925.3:c.418C>T, XM_017024925.3:c.418C>A, XM_017024925.2:c.418C>T, XM_017024925.2:c.418C>A, XM_017024925.1:c.418C>T, XM_017024925.1:c.418C>A, XM_047436510.1:c.418C>T, XM_047436510.1:c.418C>A, XM_047436511.1:c.418C>T, XM_047436511.1:c.418C>A, NP_067641.2:p.Arg140Ter, NP_001159432.1:p.Arg272Ter, NP_001356375.1:p.Arg140Ter, XP_016880410.1:p.Arg140Ter, XP_016880412.1:p.Arg140Ter, XP_016880411.1:p.Arg140Ter, XP_016880413.1:p.Arg140Ter, XP_016880414.1:p.Arg140Ter, XP_047292466.1:p.Arg140Ter, XP_047292467.1:p.Arg140Ter

Select item 20172537720.

rs201725377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8857316 (GRCh38)
12:9009912 (GRCh37)
Canonical SPDI:: NC_000012.12:8857315:C:T
Gene:: A2ML1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/1 (ExAC)
T=0.000015/4 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.8857316C>T, NC_000012.11:g.9009912C>T, NG_042857.1:g.39845C>T, NM_144670.6:c.3001C>T, NM_144670.5:c.3001C>T, NM_144670.4:c.3001C>T, NM_001282424.3:c.1528C>T, NM_001282424.2:c.1528C>T, NM_001282424.1:c.1528C>T, XM_011520566.3:c.3040C>T, XM_011520566.2:c.3040C>T, XM_011520566.1:c.3040C>T, XM_011520567.3:c.3040C>T, XM_011520567.2:c.3040C>T, XM_011520567.1:c.3040C>T, XR_931275.2:n.3071C>T, XR_931275.1:n.3138C>T, XR_001748594.2:n.3032C>T, XR_001748594.1:n.3099C>T, XM_017018869.2:c.3037C>T, XM_017018869.1:c.3037C>T, XM_017018870.2:c.3001C>T, XM_017018870.1:c.3001C>T, XM_047428387.1:c.2998C>T, NR_046256.1:n.1696C>T, NP_653271.3:p.Arg1001Trp, NP_001269353.2:p.Arg510Trp, XP_011518868.1:p.Arg1014Trp, XP_011518869.1:p.Arg1014Trp, XP_016874358.1:p.Arg1013Trp, XP_016874359.1:p.Arg1001Trp, XP_047284343.1:p.Arg1000Trp

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