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rs28942072

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28942072(C;C)
Make rs28942072(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72349093
GeneHEXA
is asnp
is mentioned by
dbSNPrs28942072
ebirs28942072
HLIrs28942072
Exacrs28942072
Varsomers28942072
Maprs28942072
PheGenIrs28942072
hapmaprs28942072
1000 genomesrs28942072
hgdprs28942072
ensemblrs28942072
gopubmedrs28942072
geneviewrs28942072
scholarrs28942072
googlers28942072
pharmgkbrs28942072
gwascentralrs28942072
openSNPrs28942072
23andMers28942072
23andMe allrs28942072
SNP Nexus

SNPshotrs28942072
SNPdbers28942072
MSV3drs28942072
GWAS Ctlgrs28942072
Max Magnitude0
OMIM606869
DescGM2-GANGLIOSIDOSIS, SUBACUTE
Variant0057
Relatedalso


ClinVar
Risk rs28942072(A,C;A,C)
Alt rs28942072(A,C;A,C)
Reference rs28942072(T;T)
Significance Pathogenic
Disease Gm2-gangliosidosis
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, subacute
Reversed 1
HGVS NC_000015.9:g.72641434A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004149.2,