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rs28941770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28941770(G;T)
Make rs28941770(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position72353105
GeneHEXA
is asnp
is mentioned by
dbSNPrs28941770
ebirs28941770
HLIrs28941770
Exacrs28941770
Varsomers28941770
Maprs28941770
PheGenIrs28941770
hapmaprs28941770
1000 genomesrs28941770
hgdprs28941770
ensemblrs28941770
gopubmedrs28941770
geneviewrs28941770
scholarrs28941770
googlers28941770
pharmgkbrs28941770
gwascentralrs28941770
openSNPrs28941770
23andMers28941770
23andMe allrs28941770
SNP Nexus

SNPshotrs28941770
SNPdbers28941770
MSV3drs28941770
GWAS Ctlgrs28941770
Max Magnitude0
Neighborrs28941771
Distance5
OMIM606869
Desc
Variant0006
Relatedalso


ClinVar
Risk rs28941770(A,C,T;A,C,T)
Alt rs28941770(A,C,T;A,C,T)
Reference rs28941770(G;G)
Significance Pathogenic
Disease Tay-Sachs disease Tay-Sachs disease Hexa
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease Tay-Sachs disease, B1 variant Hexa, dn allele
Reversed 1
HGVS NC_000015.9:g.72645446C>A; NC_000015.9:g.72645446C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004118.2, RCV000004100.3, RCV000004101.3,