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rs28942071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28942071(C;T)
Make rs28942071(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72345462
GeneHEXA
is asnp
is mentioned by
dbSNPrs28942071
ebirs28942071
HLIrs28942071
Exacrs28942071
Varsomers28942071
Maprs28942071
PheGenIrs28942071
hapmaprs28942071
1000 genomesrs28942071
hgdprs28942071
ensemblrs28942071
gopubmedrs28942071
geneviewrs28942071
scholarrs28942071
googlers28942071
pharmgkbrs28942071
gwascentralrs28942071
openSNPrs28942071
23andMers28942071
23andMe allrs28942071
SNP Nexus

SNPshotrs28942071
SNPdbers28942071
MSV3drs28942071
GWAS Ctlgrs28942071
Max Magnitude0
OMIM606869
DescGM2-GANGLIOSIDOSIS, CHRONIC
Variant0015
Relatedalso
Neighborrs28940871
Distance843
ClinVar
Risk rs28942071(T;T)
Alt rs28942071(T;T)
Reference rs28942071(C;C)
Significance Pathogenic
Disease Gm2-gangliosidosis Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, chronic Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72637803G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004112.2, RCV000169084.1,