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rs398123223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123223(C;C)
Make rs398123223(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398470
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123223
ebirs398123223
HLIrs398123223
Exacrs398123223
Varsomers398123223
Maprs398123223
PheGenIrs398123223
hapmaprs398123223
1000 genomesrs398123223
hgdprs398123223
ensemblrs398123223
gopubmedrs398123223
geneviewrs398123223
scholarrs398123223
googlers398123223
pharmgkbrs398123223
gwascentralrs398123223
openSNPrs398123223
23andMers398123223
23andMe allrs398123223
SNP Nexus

SNPshotrs398123223
SNPdbers398123223
MSV3drs398123223
GWAS Ctlgrs398123223
Max Magnitude0
ClinVar
Risk rs398123223(C;C)
Alt rs398123223(C;C)
Reference rs398123223(T;T)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653458A>G
CLNSRC HGMD
CLNACC RCV000078300.4,