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rs121907973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121907973(A;C)
Make rs121907973(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position72351215
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907973
ebirs121907973
HLIrs121907973
Exacrs121907973
Varsomers121907973
Maprs121907973
PheGenIrs121907973
hapmaprs121907973
1000 genomesrs121907973
hgdprs121907973
ensemblrs121907973
gopubmedrs121907973
geneviewrs121907973
scholarrs121907973
googlers121907973
pharmgkbrs121907973
gwascentralrs121907973
openSNPrs121907973
23andMers121907973
23andMe allrs121907973
SNP Nexus

SNPshotrs121907973
SNPdbers121907973
MSV3drs121907973
GWAS Ctlgrs121907973
Max Magnitude0
OMIM606869
Desc
Variant0041
Relatedalso
ClinVar
Risk rs121907973(C;C)
Alt rs121907973(C;C)
Reference rs121907973(A;A)
Significance Pathogenic
Disease Gm2-gangliosidosis
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, late onset
Reversed 1
HGVS NC_000015.9:g.72643556T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004133.2,