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rs121907954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8.8 Tay-Sachs disease (predicted)
(A;G) 3 Carrier for a Tay-Sachs mutation
(C;C) 2 If from Ancestry, this is a miscall and you are normal for this SNP; if from another company, please contact us.
(C;G) 3 Carrier of a Tay-Sachs mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome15
Position72350518
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907954
dbSNP (old)rs121907954
ClinGenrs121907954
ebirs121907954
HLIrs121907954
Exacrs121907954
Gnomadrs121907954
Varsomers121907954
Maprs121907954
PheGenIrs121907954
Biobankrs121907954
1000 genomesrs121907954
hgdprs121907954
ensemblrs121907954
gopubmedrs121907954
geneviewrs121907954
scholarrs121907954
googlers121907954
pharmgkbrs121907954
gwascentralrs121907954
openSNPrs121907954
23andMers121907954
23andMe allrs121907954
SNPshotrs121907954
SNPdbers121907954
MSV3drs121907954
GWAS Ctlgrs121907954
Max Magnitude8.8

rs121907954, also known as c.805G>A, p.Gly269Ser and G269S, represents a variant in the HEXA gene on chromosome 15. Note that rs121907954 can also represent c.805G>C, p.Gly269Arg or G269R, which is also a variant in the HEXA gene.

The rs121907954(A) allele is one of three most common mutations associated (when inherited recessively) with Tay-Sachs disease among Ashkenazi Jews. The rs121907954(C) allele, in dbSNP orientation, is also considered a pathogenic Tay-Sachs disease mutation according to ClinVar.

23andMe name for the the c.805G>A variant: i4000436

[PMID 27120077OA-icon.png] Exome Sequencing of Familial Bipolar Disorder. The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder. The analysis of many more patients is likely to be required to confirm or refute this association.

OMIM606869
Desc
Variant0008
Relatedalso
ClinVar
Risk Rs121907954(A;A) Rs121907954(C;C)
Alt Rs121907954(A;A) Rs121907954(C;C)
Reference Rs121907954(G;G)
Significance Pathogenic
Disease Tay-Sachs disease Gm2-gangliosidosis not provided
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease Gm2-gangliosidosis, adult not provided
Reversed 1
HGVS NC_000015.9:g.72642859C>G; NC_000015.9:g.72642859C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416443.1, RCV000004104.2, RCV000168285.4, RCV000434025.1,