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rs28935494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28935494(C;C)
Make rs28935494(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398018
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs28935494
dbSNP (classic)rs28935494
ClinGenrs28935494
ebirs28935494
HLIrs28935494
Exacrs28935494
Gnomadrs28935494
Varsomers28935494
LitVarrs28935494
Maprs28935494
PheGenIrs28935494
Biobankrs28935494
1000 genomesrs28935494
hgdprs28935494
ensemblrs28935494
geneviewrs28935494
scholarrs28935494
googlers28935494
pharmgkbrs28935494
gwascentralrs28935494
openSNPrs28935494
23andMers28935494
SNPshotrs28935494
SNPdbers28935494
MSV3drs28935494
GWAS Ctlgrs28935494
Max Magnitude0
OMIM300644
Desc
Variant0032
Relatedalso


ClinVar
Risk rs28935494(A;A) rs28935494(C;C)
Alt rs28935494(A;A) rs28935494(C;C)
Reference Rs28935494(G;G)
Significance Pathogenic
Disease Fabry disease not provided
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease not provided
Reversed 1
HGVS NC_000023.10:g.100653006C>G; NC_000023.10:g.100653006C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011492.5, RCV000235836.1,