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rs28935487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28935487(A;T)
Make rs28935487(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398789
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs28935487
dbSNP (classic)rs28935487
ClinGenrs28935487
ebirs28935487
HLIrs28935487
Exacrs28935487
Gnomadrs28935487
Varsomers28935487
LitVarrs28935487
Maprs28935487
PheGenIrs28935487
Biobankrs28935487
1000 genomesrs28935487
hgdprs28935487
ensemblrs28935487
geneviewrs28935487
scholarrs28935487
googlers28935487
pharmgkbrs28935487
gwascentralrs28935487
openSNPrs28935487
23andMers28935487
SNPshotrs28935487
SNPdbers28935487
MSV3drs28935487
GWAS Ctlgrs28935487
Max Magnitude0
OMIM300644
Desc
Variant0022
Relatedalso


ClinVar
Risk rs28935487(C;C) rs28935487(T;T)
Alt rs28935487(C;C) rs28935487(T;T)
Reference Rs28935487(A;A)
Significance Pathogenic
Disease Fabry disease not specified
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease not specified
Reversed 1
HGVS NC_000023.10:g.100653777T>A; NC_000023.10:g.100653777T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011481.7, RCV000216195.1,