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rs398123224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123224(C;T)
Make rs398123224(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398468
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123224
ebirs398123224
HLIrs398123224
Exacrs398123224
Varsomers398123224
Maprs398123224
PheGenIrs398123224
hapmaprs398123224
1000 genomesrs398123224
hgdprs398123224
ensemblrs398123224
gopubmedrs398123224
geneviewrs398123224
scholarrs398123224
googlers398123224
pharmgkbrs398123224
gwascentralrs398123224
openSNPrs398123224
23andMers398123224
23andMe allrs398123224
SNP Nexus

SNPshotrs398123224
SNPdbers398123224
MSV3drs398123224
GWAS Ctlgrs398123224
Max Magnitude0
ClinVar
Risk rs398123224(G,T;G,T)
Alt rs398123224(G,T;G,T)
Reference rs398123224(C;C)
Significance Pathogenic
Disease Fabry disease not provided not specified
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease not provided not specified
Reversed 1
HGVS NC_000023.10:g.100653456G>A; NC_000023.10:g.100653456G>C
CLNSRC HGMD
CLNACC RCV000078301.6, RCV000157879.2, RCV000156338.1,