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rs398123203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123203(A;T)
Make rs398123203(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101407767
GeneGLA, HNRNPH2, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123203
ebirs398123203
HLIrs398123203
Exacrs398123203
Varsomers398123203
Maprs398123203
PheGenIrs398123203
hapmaprs398123203
1000 genomesrs398123203
hgdprs398123203
ensemblrs398123203
gopubmedrs398123203
geneviewrs398123203
scholarrs398123203
googlers398123203
pharmgkbrs398123203
gwascentralrs398123203
openSNPrs398123203
23andMers398123203
23andMe allrs398123203
SNP Nexus

SNPshotrs398123203
SNPdbers398123203
MSV3drs398123203
GWAS Ctlgrs398123203
Max Magnitude0
ClinVar
Risk rs398123203(G,T;G,T)
Alt rs398123203(G,T;G,T)
Reference rs398123203(A;A)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100662755T>A; NC_000023.10:g.100662755T>C
CLNSRC HGMD
CLNACC RCV000078268.4, RCV000173078.3,