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rs398123222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123222(C;T)
Make rs398123222(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398546
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123222
ebirs398123222
HLIrs398123222
Exacrs398123222
Varsomers398123222
Maprs398123222
PheGenIrs398123222
hapmaprs398123222
1000 genomesrs398123222
hgdprs398123222
ensemblrs398123222
gopubmedrs398123222
geneviewrs398123222
scholarrs398123222
googlers398123222
pharmgkbrs398123222
gwascentralrs398123222
openSNPrs398123222
23andMers398123222
23andMe allrs398123222
SNP Nexus

SNPshotrs398123222
SNPdbers398123222
MSV3drs398123222
GWAS Ctlgrs398123222
Max Magnitude0
ClinVar
Risk rs398123222(T;T)
Alt rs398123222(T;T)
Reference Rs398123222(C;C)
Significance Probable-Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653534G>A
CLNSRC HGMD
CLNACC RCV000078298.4,