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rs121907970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907970(C;T)
Make rs121907970(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position72350584
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907970
ebirs121907970
HLIrs121907970
Exacrs121907970
Varsomers121907970
Maprs121907970
PheGenIrs121907970
hapmaprs121907970
1000 genomesrs121907970
hgdprs121907970
ensemblrs121907970
gopubmedrs121907970
geneviewrs121907970
scholarrs121907970
googlers121907970
pharmgkbrs121907970
gwascentralrs121907970
openSNPrs121907970
23andMers121907970
23andMe allrs121907970
SNP Nexus

SNPshotrs121907970
SNPdbers121907970
MSV3drs121907970
GWAS Ctlgrs121907970
GMAF0.0009183
Max Magnitude0
OMIM606869
Desc
Variant0035
Relatedalso
ClinVar
Risk rs121907970(T;T)
Alt rs121907970(T;T)
Reference rs121907970(C;C)
Significance Pathogenic
Disease Beta-hexosaminidase a
Variation info
Gene HEXA
CLNDBN Beta-hexosaminidase a, pseudodeficiency of
Reversed 1
HGVS NC_000015.9:g.72642925G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004128.2,