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rs121907956

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907956(A;A)
Make rs121907956(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72345476
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907956
ebirs121907956
HLIrs121907956
Exacrs121907956
Varsomers121907956
Maprs121907956
PheGenIrs121907956
hapmaprs121907956
1000 genomesrs121907956
hgdprs121907956
ensemblrs121907956
gopubmedrs121907956
geneviewrs121907956
scholarrs121907956
googlers121907956
pharmgkbrs121907956
gwascentralrs121907956
openSNPrs121907956
23andMers121907956
23andMe allrs121907956
SNP Nexus

SNPshotrs121907956
SNPdbers121907956
MSV3drs121907956
GWAS Ctlgrs121907956
Max Magnitude0
OMIM606869
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121907956(A;A)
Alt rs121907956(A;A)
Reference rs121907956(G;G)
Significance Pathogenic
Disease Gm2-gangliosidosis Inborn genetic diseases
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, juvenile Inborn genetic diseases
Reversed 1
HGVS NC_000015.9:g.72637817C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004105.2, RCV000210735.1,