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rs121907979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907979(G;G)
Make rs121907979(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72375857
GeneC15orf34, HEXA
is asnp
is mentioned by
dbSNPrs121907979
ebirs121907979
HLIrs121907979
Exacrs121907979
Varsomers121907979
Maprs121907979
PheGenIrs121907979
hapmaprs121907979
1000 genomesrs121907979
hgdprs121907979
ensemblrs121907979
gopubmedrs121907979
geneviewrs121907979
scholarrs121907979
googlers121907979
pharmgkbrs121907979
gwascentralrs121907979
openSNPrs121907979
23andMers121907979
23andMe allrs121907979
SNP Nexus

SNPshotrs121907979
SNPdbers121907979
MSV3drs121907979
GWAS Ctlgrs121907979
Max Magnitude0
OMIM606869
Desc
Variant0049
Relatedalso
ClinVar
Risk rs121907979(G;G)
Alt rs121907979(G;G)
Reference rs121907979(T;T)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA-AS1 HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72668198A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004141.2,