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rs28935493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28935493(A;A)
Make rs28935493(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398074
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs28935493
ebirs28935493
HLIrs28935493
Exacrs28935493
Varsomers28935493
Maprs28935493
PheGenIrs28935493
hapmaprs28935493
1000 genomesrs28935493
hgdprs28935493
ensemblrs28935493
gopubmedrs28935493
geneviewrs28935493
scholarrs28935493
googlers28935493
pharmgkbrs28935493
gwascentralrs28935493
openSNPrs28935493
23andMers28935493
23andMe allrs28935493
SNP Nexus

SNPshotrs28935493
SNPdbers28935493
MSV3drs28935493
GWAS Ctlgrs28935493
Max Magnitude0
OMIM300644
Desc
Variant0030
Relatedalso


ClinVar
Risk rs28935493(A;A)
Alt rs28935493(A;A)
Reference rs28935493(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653062C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011490.11,