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rs28935491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28935491(A;A)
Make rs28935491(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398390
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs28935491
ebirs28935491
HLIrs28935491
Exacrs28935491
Varsomers28935491
Maprs28935491
PheGenIrs28935491
hapmaprs28935491
1000 genomesrs28935491
hgdprs28935491
ensemblrs28935491
gopubmedrs28935491
geneviewrs28935491
scholarrs28935491
googlers28935491
pharmgkbrs28935491
gwascentralrs28935491
openSNPrs28935491
23andMers28935491
23andMe allrs28935491
SNP Nexus

SNPshotrs28935491
SNPdbers28935491
MSV3drs28935491
GWAS Ctlgrs28935491
Max Magnitude0
OMIM300644
Desc
Variant0027
Relatedalso


ClinVar
Risk rs28935491(A;A)
Alt rs28935491(A;A)
Reference rs28935491(C;C)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653378G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011487.2,