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rs398123221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123221(C;T)
Make rs398123221(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398838
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123221
ebirs398123221
HLIrs398123221
Exacrs398123221
Varsomers398123221
Maprs398123221
PheGenIrs398123221
hapmaprs398123221
1000 genomesrs398123221
hgdprs398123221
ensemblrs398123221
gopubmedrs398123221
geneviewrs398123221
scholarrs398123221
googlers398123221
pharmgkbrs398123221
gwascentralrs398123221
openSNPrs398123221
23andMers398123221
23andMe allrs398123221
SNP Nexus

SNPshotrs398123221
SNPdbers398123221
MSV3drs398123221
GWAS Ctlgrs398123221
Max Magnitude0
ClinVar
Risk rs398123221(T;T)
Alt rs398123221(T;T)
Reference rs398123221(C;C)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653826G>A
CLNSRC HGMD
CLNACC RCV000078297.4,