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rs398123199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123199(C;G)
Make rs398123199(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101407785
GeneGLA, HNRNPH2, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123199
ebirs398123199
HLIrs398123199
Exacrs398123199
Varsomers398123199
Maprs398123199
PheGenIrs398123199
hapmaprs398123199
1000 genomesrs398123199
hgdprs398123199
ensemblrs398123199
gopubmedrs398123199
geneviewrs398123199
scholarrs398123199
googlers398123199
pharmgkbrs398123199
gwascentralrs398123199
openSNPrs398123199
23andMers398123199
23andMe allrs398123199
SNP Nexus

SNPshotrs398123199
SNPdbers398123199
MSV3drs398123199
GWAS Ctlgrs398123199
Max Magnitude0
ClinVar
Risk rs398123199(G;G)
Alt rs398123199(G;G)
Reference rs398123199(C;C)
Significance Probable-Pathogenic
Disease Fabry disease
Variation info
Gene HNRNPH2 RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100662773G>C
CLNSRC ClinVar Emory University
CLNACC RCV000078264.4,