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rs121907980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907980(A;A)
Make rs121907980(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72350517
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907980
ebirs121907980
HLIrs121907980
Exacrs121907980
Varsomers121907980
Maprs121907980
PheGenIrs121907980
hapmaprs121907980
1000 genomesrs121907980
hgdprs121907980
ensemblrs121907980
gopubmedrs121907980
geneviewrs121907980
scholarrs121907980
googlers121907980
pharmgkbrs121907980
gwascentralrs121907980
openSNPrs121907980
23andMers121907980
23andMe allrs121907980
SNP Nexus

SNPshotrs121907980
SNPdbers121907980
MSV3drs121907980
GWAS Ctlgrs121907980
Max Magnitude0
OMIM606869
Desc
Variant0052
Relatedalso
ClinVar
Risk rs121907980(A;A)
Alt rs121907980(A;A)
Reference rs121907980(G;G)
Significance Pathogenic
Disease Gm2-gangliosidosis
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, late onset
Reversed 1
HGVS NC_000015.9:g.72642858C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004144.2,