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rs398123201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123201(C;C)
Make rs398123201(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101407779
GeneGLA, HNRNPH2, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123201
ebirs398123201
HLIrs398123201
Exacrs398123201
Varsomers398123201
Maprs398123201
PheGenIrs398123201
hapmaprs398123201
1000 genomesrs398123201
hgdprs398123201
ensemblrs398123201
gopubmedrs398123201
geneviewrs398123201
scholarrs398123201
googlers398123201
pharmgkbrs398123201
gwascentralrs398123201
openSNPrs398123201
23andMers398123201
23andMe allrs398123201
SNP Nexus

SNPshotrs398123201
SNPdbers398123201
MSV3drs398123201
GWAS Ctlgrs398123201
Max Magnitude0
ClinVar
Risk rs398123201(C;C)
Alt rs398123201(C;C)
Reference rs398123201(T;T)
Significance Probable-Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100662767A>G
CLNSRC HGMD
CLNACC RCV000078266.6,