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rs28941771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28941771(C;C)
Make rs28941771(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72353100
GeneHEXA
is asnp
is mentioned by
dbSNPrs28941771
ebirs28941771
HLIrs28941771
Exacrs28941771
Varsomers28941771
Maprs28941771
PheGenIrs28941771
hapmaprs28941771
1000 genomesrs28941771
hgdprs28941771
ensemblrs28941771
gopubmedrs28941771
geneviewrs28941771
scholarrs28941771
googlers28941771
pharmgkbrs28941771
gwascentralrs28941771
openSNPrs28941771
23andMers28941771
23andMe allrs28941771
SNP Nexus

SNPshotrs28941771
SNPdbers28941771
MSV3drs28941771
GWAS Ctlgrs28941771
Max Magnitude0
OMIM606869
DescGM2-GANGLIOSIDOSIS, LATE ONSET
Variant0053
Relatedalso
Neighborrs28941770
Distance5


ClinVar
Risk rs28941771(C;C)
Alt rs28941771(C;C)
Reference rs28941771(T;T)
Significance Pathogenic
Disease Gm2-gangliosidosis
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, late onset
Reversed 1
HGVS NC_000015.9:g.72645441A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004145.2,