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rs28935489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28935489(C;T)
Make rs28935489(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398479
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs28935489
ebirs28935489
HLIrs28935489
Exacrs28935489
Varsomers28935489
Maprs28935489
PheGenIrs28935489
hapmaprs28935489
1000 genomesrs28935489
hgdprs28935489
ensemblrs28935489
gopubmedrs28935489
geneviewrs28935489
scholarrs28935489
googlers28935489
pharmgkbrs28935489
gwascentralrs28935489
openSNPrs28935489
23andMers28935489
23andMe allrs28935489
SNP Nexus

SNPshotrs28935489
SNPdbers28935489
MSV3drs28935489
GWAS Ctlgrs28935489
Max Magnitude0
OMIM300644
Desc
Variant0025
Relatedalso


ClinVar
Risk rs28935489(T;T)
Alt rs28935489(T;T)
Reference rs28935489(C;C)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653467G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011484.4,