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rs121907969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907969(C;G)
Make rs121907969(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72353098
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907969
ebirs121907969
HLIrs121907969
Exacrs121907969
Varsomers121907969
Maprs121907969
PheGenIrs121907969
hapmaprs121907969
1000 genomesrs121907969
hgdprs121907969
ensemblrs121907969
gopubmedrs121907969
geneviewrs121907969
scholarrs121907969
googlers121907969
pharmgkbrs121907969
gwascentralrs121907969
openSNPrs121907969
23andMers121907969
23andMe allrs121907969
SNP Nexus

SNPshotrs121907969
SNPdbers121907969
MSV3drs121907969
GWAS Ctlgrs121907969
Max Magnitude0
OMIM606869
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121907969(G,T;G,T)
Alt rs121907969(G,T;G,T)
Reference rs121907969(C;C)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72645439G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004125.2,