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rs398123227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123227(A;A)
Make rs398123227(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398396
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123227
ebirs398123227
HLIrs398123227
Exacrs398123227
Varsomers398123227
Maprs398123227
PheGenIrs398123227
hapmaprs398123227
1000 genomesrs398123227
hgdprs398123227
ensemblrs398123227
gopubmedrs398123227
geneviewrs398123227
scholarrs398123227
googlers398123227
pharmgkbrs398123227
gwascentralrs398123227
openSNPrs398123227
23andMers398123227
23andMe allrs398123227
SNP Nexus

SNPshotrs398123227
SNPdbers398123227
MSV3drs398123227
GWAS Ctlgrs398123227
Max Magnitude0
ClinVar
Risk rs398123227(A;A)
Alt rs398123227(A;A)
Reference rs398123227(G;G)
Significance Probable-Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653384C>T
CLNSRC University of Rostock
CLNACC RCV000078305.6,