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rs398123207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123207(G;T)
Make rs398123207(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101407885
GeneGLA, HNRNPH2, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123207
ebirs398123207
HLIrs398123207
Exacrs398123207
Varsomers398123207
Maprs398123207
PheGenIrs398123207
hapmaprs398123207
1000 genomesrs398123207
hgdprs398123207
ensemblrs398123207
gopubmedrs398123207
geneviewrs398123207
scholarrs398123207
googlers398123207
pharmgkbrs398123207
gwascentralrs398123207
openSNPrs398123207
23andMers398123207
23andMe allrs398123207
SNP Nexus

SNPshotrs398123207
SNPdbers398123207
MSV3drs398123207
GWAS Ctlgrs398123207
Max Magnitude0
ClinVar
Risk rs398123207(T;T)
Alt rs398123207(T;T)
Reference rs398123207(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene HNRNPH2 RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100662873C>A
CLNSRC HGMD
CLNACC RCV000078272.4,