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rs398123205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123205(C;C)
Make rs398123205(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101407758
GeneGLA, HNRNPH2, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123205
ebirs398123205
HLIrs398123205
Exacrs398123205
Varsomers398123205
Maprs398123205
PheGenIrs398123205
hapmaprs398123205
1000 genomesrs398123205
hgdprs398123205
ensemblrs398123205
gopubmedrs398123205
geneviewrs398123205
scholarrs398123205
googlers398123205
pharmgkbrs398123205
gwascentralrs398123205
openSNPrs398123205
23andMers398123205
23andMe allrs398123205
SNP Nexus

SNPshotrs398123205
SNPdbers398123205
MSV3drs398123205
GWAS Ctlgrs398123205
Max Magnitude0
ClinVar
Risk rs398123205(C;C)
Alt rs398123205(C;C)
Reference rs398123205(G;G)
Significance Probable-Pathogenic
Disease Fabry disease
Variation info
Gene HNRNPH2 RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100662746C>G
CLNSRC HGMD
CLNACC RCV000078270.4,