SNP Links for Protein (Select 767985103) - SNP

Links from Protein

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Select item 14892594771.

rs1489259477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:30089316 (GRCh38)
15:30381519 (GRCh37)
Canonical SPDI:: NC_000015.10:30089315:C:G,NC_000015.10:30089315:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000015.10:g.30089316C>G, NC_000015.10:g.30089316C>T, NC_000015.9:g.30381519C>G, NC_000015.9:g.30381519C>T, NW_011332701.1:g.2262036C>G, NW_011332701.1:g.2262036C>T, NT_187660.1:g.2374520C>G, NT_187660.1:g.2374520C>T, NW_012132920.1:g.77003C>G, NW_012132920.1:g.77003C>T, XM_006720651.4:c.828C>G, XM_006720651.4:c.828C>T, XM_006720651.3:c.828C>G, XM_006720651.3:c.828C>T, XM_006720651.2:c.828C>G, XM_006720651.2:c.828C>T, XM_006720651.1:c.828C>G, XM_006720651.1:c.828C>T, XM_011521950.3:c.867C>G, XM_011521950.3:c.867C>T, XM_011521950.2:c.867C>G, XM_011521950.2:c.867C>T, XM_011521950.1:c.867C>G, XM_011521950.1:c.867C>T, NM_001282472.2:c.867C>G, NM_001282472.2:c.867C>T, NM_001282472.1:c.867C>G, NM_001282472.1:c.867C>T, XR_002957674.2:n.965C>G, XR_002957674.2:n.965C>T, XR_002957674.1:n.1292C>G, XR_002957674.1:n.1292C>T, XM_047432963.1:c.624C>G, XM_047432963.1:c.624C>T, XP_006720714.1:p.Asn276Lys, XP_011520252.1:p.Asn289Lys, NP_001269401.1:p.Asn289Lys, XP_047288919.1:p.Asn208Lys

Select item 14888031742.

rs1488803174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:30084836 (GRCh38)
15:30377039 (GRCh37)
Canonical SPDI:: NC_000015.10:30084835:A:C
Gene:: GOLGA8J (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000015.10:g.30084836A>C, NC_000015.9:g.30377039A>C, NW_011332701.1:g.2257556A>C, NT_187660.1:g.2370040A>C, NW_012132920.1:g.72515A>C, XM_006720651.4:c.75A>C, XM_006720651.3:c.75A>C, XM_006720651.2:c.75A>C, XM_006720651.1:c.75A>C, XM_011521950.3:c.114A>C, XM_011521950.2:c.114A>C, XM_011521950.1:c.114A>C, NM_001282472.2:c.114A>C, NM_001282472.1:c.114A>C, XR_002957674.2:n.212A>C, XR_002957674.1:n.539A>C

Select item 14887686453.

rs1488768645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:30089817 (GRCh38)
15:30382020 (GRCh37)
Canonical SPDI:: NC_000015.10:30089816:G:A,NC_000015.10:30089816:G:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00044/11 (ALFA)
A=0.00152/43 (TOMMO)
HGVS:: NC_000015.10:g.30089817G>A, NC_000015.10:g.30089817G>T, NC_000015.9:g.30382020G>A, NC_000015.9:g.30382020G>T, NW_011332701.1:g.2262537G>A, NW_011332701.1:g.2262537G>T, NT_187660.1:g.2375021G>A, NT_187660.1:g.2375021G>T, NW_012132920.1:g.77504G>A, NW_012132920.1:g.77504G>T, XM_006720651.4:c.953G>A, XM_006720651.4:c.953G>T, XM_006720651.3:c.953G>A, XM_006720651.3:c.953G>T, XM_006720651.2:c.953G>A, XM_006720651.2:c.953G>T, XM_006720651.1:c.953G>A, XM_006720651.1:c.953G>T, XM_011521950.3:c.992G>A, XM_011521950.3:c.992G>T, XM_011521950.2:c.992G>A, XM_011521950.2:c.992G>T, XM_011521950.1:c.992G>A, XM_011521950.1:c.992G>T, NM_001282472.2:c.992G>A, NM_001282472.2:c.992G>T, NM_001282472.1:c.992G>A, NM_001282472.1:c.992G>T, XR_002957674.2:n.1090G>A, XR_002957674.2:n.1090G>T, XR_002957674.1:n.1417G>A, XR_002957674.1:n.1417G>T, XM_047432963.1:c.749G>A, XM_047432963.1:c.749G>T, XP_006720714.1:p.Arg318His, XP_006720714.1:p.Arg318Leu, XP_011520252.1:p.Arg331His, XP_011520252.1:p.Arg331Leu, NP_001269401.1:p.Arg331His, NP_001269401.1:p.Arg331Leu, XP_047288919.1:p.Arg250His, XP_047288919.1:p.Arg250Leu

Select item 14878084674.

rs1487808467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:30091299 (GRCh38)
15:30383502 (GRCh37)
Canonical SPDI:: NC_000015.10:30091298:G:A,NC_000015.10:30091298:G:C
Gene:: GOLGA8J (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000017/2 (GnomAD)
HGVS:: NC_000015.10:g.30091299G>A, NC_000015.10:g.30091299G>C, NC_000015.9:g.30383502G>A, NC_000015.9:g.30383502G>C, NW_011332701.1:g.2264019G>A, NW_011332701.1:g.2264019G>C, NT_187660.1:g.2376503G>A, NT_187660.1:g.2376503G>C, NW_012132920.1:g.78978G>A, NW_012132920.1:g.78978G>C, XM_011521950.3:c.1293G>A, XM_011521950.3:c.1293G>C, XM_011521950.2:c.1293G>A, XM_011521950.2:c.1293G>C, XM_011521950.1:c.1293G>A, XM_011521950.1:c.1293G>C, XP_011520252.1:p.Gln431His

Select item 14877834455.

rs1487783445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:30090236 (GRCh38)
15:30382439 (GRCh37)
Canonical SPDI:: NC_000015.10:30090235:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000013/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.30090236C>T, NC_000015.9:g.30382439C>T, NW_011332701.1:g.2262956C>T, NT_187660.1:g.2375440C>T, NW_012132920.1:g.77923C>T, XM_006720651.4:c.1117C>T, XM_006720651.3:c.1117C>T, XM_006720651.2:c.1117C>T, XM_006720651.1:c.1117C>T, XM_011521950.3:c.1156C>T, XM_011521950.2:c.1156C>T, XM_011521950.1:c.1156C>T, NM_001282472.2:c.1156C>T, NM_001282472.1:c.1156C>T, XR_002957674.2:n.1254C>T, XR_002957674.1:n.1581C>T, XM_047432963.1:c.913C>T, XP_006720714.1:p.Gln373Ter, XP_011520252.1:p.Gln386Ter, NP_001269401.1:p.Gln386Ter, XP_047288919.1:p.Gln305Ter

Select item 14865191096.

rs1486519109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:30084812 (GRCh38)
15:30377015 (GRCh37)
Canonical SPDI:: NC_000015.10:30084811:A:G
Gene:: GOLGA8J (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.30084812A>G, NC_000015.9:g.30377015A>G, NW_011332701.1:g.2257532A>G, NT_187660.1:g.2370016A>G, NW_012132920.1:g.72491A>G, XM_006720651.4:c.51A>G, XM_006720651.3:c.51A>G, XM_006720651.2:c.51A>G, XM_006720651.1:c.51A>G, XM_011521950.3:c.90A>G, XM_011521950.2:c.90A>G, XM_011521950.1:c.90A>G, NM_001282472.2:c.90A>G, NM_001282472.1:c.90A>G, XR_002957674.2:n.188A>G, XR_002957674.1:n.515A>G

Select item 14853462217.

rs1485346221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:30084880 (GRCh38)
15:30377083 (GRCh37)
Canonical SPDI:: NC_000015.10:30084879:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000337/4 (ALFA)
T=0.000037/4 (GnomAD)
T=0.00004/7 (GnomAD_exomes)
HGVS:: NC_000015.10:g.30084880C>T, NC_000015.9:g.30377083C>T, NW_011332701.1:g.2257600C>T, NT_187660.1:g.2370084C>T, NW_012132920.1:g.72559C>T, XM_006720651.4:c.119C>T, XM_006720651.3:c.119C>T, XM_006720651.2:c.119C>T, XM_006720651.1:c.119C>T, XM_011521950.3:c.158C>T, XM_011521950.2:c.158C>T, XM_011521950.1:c.158C>T, NM_001282472.2:c.158C>T, NM_001282472.1:c.158C>T, XR_002957674.2:n.256C>T, XR_002957674.1:n.583C>T, XP_006720714.1:p.Pro40Leu, XP_011520252.1:p.Pro53Leu, NP_001269401.1:p.Pro53Leu

Select item 14814613148.

rs1481461314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30085793 (GRCh38)
15:30377996 (GRCh37)
Canonical SPDI:: NC_000015.10:30085792:G:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.30085793G>A, NC_000015.9:g.30377996G>A, NW_011332701.1:g.2258513G>A, NT_187660.1:g.2370997G>A, NW_012132920.1:g.73472G>A, XM_006720651.4:c.140G>A, XM_006720651.3:c.140G>A, XM_006720651.2:c.140G>A, XM_006720651.1:c.140G>A, XM_011521950.3:c.179G>A, XM_011521950.2:c.179G>A, XM_011521950.1:c.179G>A, NM_001282472.2:c.179G>A, NM_001282472.1:c.179G>A, XR_002957674.2:n.277G>A, XR_002957674.1:n.604G>A, XP_006720714.1:p.Gly47Asp, XP_011520252.1:p.Gly60Asp, NP_001269401.1:p.Gly60Asp

Select item 14801954239.

rs1480195423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:30087276 (GRCh38)
15:30379479 (GRCh37)
Canonical SPDI:: NC_000015.10:30087275:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00025/3 (ALFA)
HGVS:: NC_000015.10:g.30087276C>T, NC_000015.9:g.30379479C>T, NW_011332701.1:g.2259996C>T, NT_187660.1:g.2372480C>T, NW_012132920.1:g.74955C>T, XM_006720651.4:c.327C>T, XM_006720651.3:c.327C>T, XM_006720651.2:c.327C>T, XM_006720651.1:c.327C>T, XM_011521950.3:c.366C>T, XM_011521950.2:c.366C>T, XM_011521950.1:c.366C>T, NM_001282472.2:c.366C>T, NM_001282472.1:c.366C>T, XR_002957674.2:n.464C>T, XR_002957674.1:n.791C>T, XM_047432963.1:c.123C>T

Select item 147961465410.

rs1479614654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:30091308 (GRCh38)
15:30383511 (GRCh37)
Canonical SPDI:: NC_000015.10:30091307:C:G,NC_000015.10:30091307:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000071/1 (TOMMO)
T=0.000143/17 (GnomAD)
HGVS:: NC_000015.10:g.30091308C>G, NC_000015.10:g.30091308C>T, NC_000015.9:g.30383511C>G, NC_000015.9:g.30383511C>T, NW_011332701.1:g.2264028C>G, NW_011332701.1:g.2264028C>T, NT_187660.1:g.2376512C>G, NT_187660.1:g.2376512C>T, XM_011521950.3:c.1302C>G, XM_011521950.3:c.1302C>T, XM_011521950.2:c.1302C>G, XM_011521950.2:c.1302C>T, XM_011521950.1:c.1302C>G, XM_011521950.1:c.1302C>T

Select item 147955318511.

rs1479553185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30089950 (GRCh38)
15:30382153 (GRCh37)
Canonical SPDI:: NC_000015.10:30089949:G:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.30089950G>A, NC_000015.9:g.30382153G>A, NW_011332701.1:g.2262670G>A, NT_187660.1:g.2375154G>A, NW_012132920.1:g.77637G>A, XM_006720651.4:c.1086G>A, XM_006720651.3:c.1086G>A, XM_006720651.2:c.1086G>A, XM_006720651.1:c.1086G>A, XM_011521950.3:c.1125G>A, XM_011521950.2:c.1125G>A, XM_011521950.1:c.1125G>A, NM_001282472.2:c.1125G>A, NM_001282472.1:c.1125G>A, XR_002957674.2:n.1223G>A, XR_002957674.1:n.1550G>A, XM_047432963.1:c.882G>A

Select item 147950248212.

rs1479502482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:30088759 (GRCh38)
15:30380962 (GRCh37)
Canonical SPDI:: NC_000015.10:30088758:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000023/3 (GnomAD)
HGVS:: NC_000015.10:g.30088759C>T, NC_000015.9:g.30380962C>T, NW_011332701.1:g.2261479C>T, NT_187660.1:g.2373963C>T, NW_012132920.1:g.76446C>T, XM_006720651.4:c.572C>T, XM_006720651.3:c.572C>T, XM_006720651.2:c.572C>T, XM_006720651.1:c.572C>T, XM_011521950.3:c.611C>T, XM_011521950.2:c.611C>T, XM_011521950.1:c.611C>T, NM_001282472.2:c.611C>T, NM_001282472.1:c.611C>T, XR_002957674.2:n.709C>T, XR_002957674.1:n.1036C>T, XM_047432963.1:c.368C>T, XP_006720714.1:p.Ala191Val, XP_011520252.1:p.Ala204Val, NP_001269401.1:p.Ala204Val, XP_047288919.1:p.Ala123Val

Select item 147900893013.

rs1479008930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:30090268 (GRCh38)
15:30382471 (GRCh37)
Canonical SPDI:: NC_000015.10:30090267:G:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.30090268G>T, NC_000015.9:g.30382471G>T, NW_011332701.1:g.2262988G>T, NT_187660.1:g.2375472G>T, NW_012132920.1:g.77955G>T, XM_006720651.4:c.1149G>T, XM_006720651.3:c.1149G>T, XM_006720651.2:c.1149G>T, XM_006720651.1:c.1149G>T, XM_011521950.3:c.1188G>T, XM_011521950.2:c.1188G>T, XM_011521950.1:c.1188G>T, NM_001282472.2:c.1188G>T, NM_001282472.1:c.1188G>T, XR_002957674.2:n.1286G>T, XR_002957674.1:n.1613G>T, XM_047432963.1:c.945G>T, XP_006720714.1:p.Glu383Asp, XP_011520252.1:p.Glu396Asp, NP_001269401.1:p.Glu396Asp, XP_047288919.1:p.Glu315Asp

Select item 147802440614.

rs1478024406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30089765 (GRCh38)
15:30381968 (GRCh37)
Canonical SPDI:: NC_000015.10:30089764:G:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000012/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.30089765G>A, NC_000015.9:g.30381968G>A, NW_011332701.1:g.2262485G>A, NT_187660.1:g.2374969G>A, NW_012132920.1:g.77452G>A, XM_006720651.4:c.901G>A, XM_006720651.3:c.901G>A, XM_006720651.2:c.901G>A, XM_006720651.1:c.901G>A, XM_011521950.3:c.940G>A, XM_011521950.2:c.940G>A, XM_011521950.1:c.940G>A, NM_001282472.2:c.940G>A, NM_001282472.1:c.940G>A, XR_002957674.2:n.1038G>A, XR_002957674.1:n.1365G>A, XM_047432963.1:c.697G>A, XP_006720714.1:p.Glu301Lys, XP_011520252.1:p.Glu314Lys, NP_001269401.1:p.Glu314Lys, XP_047288919.1:p.Glu233Lys

Select item 147600888115.

rs1476008881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30087625 (GRCh38)
15:30379828 (GRCh37)
Canonical SPDI:: NC_000015.10:30087624:G:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.30087625G>A, NC_000015.9:g.30379828G>A, NW_011332701.1:g.2260345G>A, NT_187660.1:g.2372829G>A, NW_012132920.1:g.75304G>A, XM_006720651.4:c.493G>A, XM_006720651.3:c.493G>A, XM_006720651.2:c.493G>A, XM_006720651.1:c.493G>A, XM_011521950.3:c.532G>A, XM_011521950.2:c.532G>A, XM_011521950.1:c.532G>A, NM_001282472.2:c.532G>A, NM_001282472.1:c.532G>A, XR_002957674.2:n.630G>A, XR_002957674.1:n.957G>A, XM_047432963.1:c.289G>A, XP_006720714.1:p.Gly165Arg, XP_011520252.1:p.Gly178Arg, NP_001269401.1:p.Gly178Arg, XP_047288919.1:p.Gly97Arg

Select item 147476237516.

rs1474762375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:30089827 (GRCh38)
15:30382030 (GRCh37)
Canonical SPDI:: NC_000015.10:30089826:C:A,NC_000015.10:30089826:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000015.10:g.30089827C>A, NC_000015.10:g.30089827C>T, NC_000015.9:g.30382030C>A, NC_000015.9:g.30382030C>T, NW_011332701.1:g.2262547C>A, NW_011332701.1:g.2262547C>T, NT_187660.1:g.2375031C>A, NT_187660.1:g.2375031C>T, NW_012132920.1:g.77514C>A, NW_012132920.1:g.77514C>T, XM_006720651.4:c.963C>A, XM_006720651.4:c.963C>T, XM_006720651.3:c.963C>A, XM_006720651.3:c.963C>T, XM_006720651.2:c.963C>A, XM_006720651.2:c.963C>T, XM_006720651.1:c.963C>A, XM_006720651.1:c.963C>T, XM_011521950.3:c.1002C>A, XM_011521950.3:c.1002C>T, XM_011521950.2:c.1002C>A, XM_011521950.2:c.1002C>T, XM_011521950.1:c.1002C>A, XM_011521950.1:c.1002C>T, NM_001282472.2:c.1002C>A, NM_001282472.2:c.1002C>T, NM_001282472.1:c.1002C>A, NM_001282472.1:c.1002C>T, XR_002957674.2:n.1100C>A, XR_002957674.2:n.1100C>T, XR_002957674.1:n.1427C>A, XR_002957674.1:n.1427C>T, XM_047432963.1:c.759C>A, XM_047432963.1:c.759C>T

Select item 147333428317.

rs1473334283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30089006 (GRCh38)
15:30381209 (GRCh37)
Canonical SPDI:: NC_000015.10:30089005:G:A
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/4 (GnomAD)
A=0.0001/7 (GnomAD_exomes)
HGVS:: NC_000015.10:g.30089006G>A, NC_000015.9:g.30381209G>A, NW_011332701.1:g.2261726G>A, NT_187660.1:g.2374210G>A, NW_012132920.1:g.76693G>A, XM_006720651.4:c.713G>A, XM_006720651.3:c.713G>A, XM_006720651.2:c.713G>A, XM_006720651.1:c.713G>A, XM_011521950.3:c.752G>A, XM_011521950.2:c.752G>A, XM_011521950.1:c.752G>A, NM_001282472.2:c.752G>A, NM_001282472.1:c.752G>A, XR_002957674.2:n.850G>A, XR_002957674.1:n.1177G>A, XM_047432963.1:c.509G>A, XP_006720714.1:p.Arg238Gln, XP_011520252.1:p.Arg251Gln, NP_001269401.1:p.Arg251Gln, XP_047288919.1:p.Arg170Gln

Select item 146997527718.

rs1469975277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:30087649 (GRCh38)
15:30379852 (GRCh37)
Canonical SPDI:: NC_000015.10:30087648:A:G
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01299/232 (ALFA)
A=0./0 (SGDP_PRJ)
G=0.00428/12 (KOREAN)
G=0.00709/117 (TOMMO)
G=0.00867/499 (GnomAD)
G=0.02389/153 (1000Genomes)
HGVS:: NC_000015.10:g.30087649A>G, NC_000015.9:g.30379852A>G, NW_011332701.1:g.2260369A>G, NT_187660.1:g.2372853A>G, NW_012132920.1:g.75328A>G, XM_006720651.4:c.517A>G, XM_006720651.3:c.517A>G, XM_006720651.2:c.517A>G, XM_006720651.1:c.517A>G, XM_011521950.3:c.556A>G, XM_011521950.2:c.556A>G, XM_011521950.1:c.556A>G, NM_001282472.2:c.556A>G, NM_001282472.1:c.556A>G, XR_002957674.2:n.654A>G, XR_002957674.1:n.981A>G, XM_047432963.1:c.313A>G, XP_006720714.1:p.Asn173Asp, XP_011520252.1:p.Asn186Asp, NP_001269401.1:p.Asn186Asp, XP_047288919.1:p.Asn105Asp

Select item 146755351519.

rs1467553515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:30089720 (GRCh38)
15:30381923 (GRCh37)
Canonical SPDI:: NC_000015.10:30089719:C:A,NC_000015.10:30089719:C:T
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.30089720C>A, NC_000015.10:g.30089720C>T, NC_000015.9:g.30381923C>A, NC_000015.9:g.30381923C>T, NW_011332701.1:g.2262440C>A, NW_011332701.1:g.2262440C>T, NT_187660.1:g.2374924C>A, NT_187660.1:g.2374924C>T, NW_012132920.1:g.77407C>A, NW_012132920.1:g.77407C>T, XM_006720651.4:c.856C>A, XM_006720651.4:c.856C>T, XM_006720651.3:c.856C>A, XM_006720651.3:c.856C>T, XM_006720651.2:c.856C>A, XM_006720651.2:c.856C>T, XM_006720651.1:c.856C>A, XM_006720651.1:c.856C>T, XM_011521950.3:c.895C>A, XM_011521950.3:c.895C>T, XM_011521950.2:c.895C>A, XM_011521950.2:c.895C>T, XM_011521950.1:c.895C>A, XM_011521950.1:c.895C>T, NM_001282472.2:c.895C>A, NM_001282472.2:c.895C>T, NM_001282472.1:c.895C>A, NM_001282472.1:c.895C>T, XR_002957674.2:n.993C>A, XR_002957674.2:n.993C>T, XR_002957674.1:n.1320C>A, XR_002957674.1:n.1320C>T, XM_047432963.1:c.652C>A, XM_047432963.1:c.652C>T, XP_006720714.1:p.Pro286Thr, XP_006720714.1:p.Pro286Ser, XP_011520252.1:p.Pro299Thr, XP_011520252.1:p.Pro299Ser, NP_001269401.1:p.Pro299Thr, NP_001269401.1:p.Pro299Ser, XP_047288919.1:p.Pro218Thr, XP_047288919.1:p.Pro218Ser

Select item 146730454520.

rs1467304545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:30089922 (GRCh38)
15:30382125 (GRCh37)
Canonical SPDI:: NC_000015.10:30089921:A:C
Gene:: GOLGA8J (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.30089922A>C, NC_000015.9:g.30382125A>C, NW_011332701.1:g.2262642A>C, NT_187660.1:g.2375126A>C, NW_012132920.1:g.77609A>C, XM_006720651.4:c.1058A>C, XM_006720651.3:c.1058A>C, XM_006720651.2:c.1058A>C, XM_006720651.1:c.1058A>C, XM_011521950.3:c.1097A>C, XM_011521950.2:c.1097A>C, XM_011521950.1:c.1097A>C, NM_001282472.2:c.1097A>C, NM_001282472.1:c.1097A>C, XR_002957674.2:n.1195A>C, XR_002957674.1:n.1522A>C, XM_047432963.1:c.854A>C, XP_006720714.1:p.Gln353Pro, XP_011520252.1:p.Gln366Pro, NP_001269401.1:p.Gln366Pro, XP_047288919.1:p.Gln285Pro

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