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rs121907967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907967(A;A)
Make rs121907967(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72348134
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907967
ebirs121907967
HLIrs121907967
Exacrs121907967
Varsomers121907967
Maprs121907967
PheGenIrs121907967
hapmaprs121907967
1000 genomesrs121907967
hgdprs121907967
ensemblrs121907967
gopubmedrs121907967
geneviewrs121907967
scholarrs121907967
googlers121907967
pharmgkbrs121907967
gwascentralrs121907967
openSNPrs121907967
23andMers121907967
23andMe allrs121907967
SNP Nexus

SNPshotrs121907967
SNPdbers121907967
MSV3drs121907967
GWAS Ctlgrs121907967
Max Magnitude0
OMIM606869
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121907967(A;A)
Alt rs121907967(A;A)
Reference rs121907967(G;G)
Significance Pathogenic
Disease Gm2-gangliosidosis
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, variant b1
Reversed 1
HGVS NC_000015.9:g.72640475C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004122.2,