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rs398123214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123214(-;-)
Make rs398123214(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101400675
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123214
dbSNP (classic)rs398123214
ClinGenrs398123214
ebirs398123214
HLIrs398123214
Exacrs398123214
Gnomadrs398123214
Varsomers398123214
LitVarrs398123214
Maprs398123214
PheGenIrs398123214
Biobankrs398123214
1000 genomesrs398123214
hgdprs398123214
ensemblrs398123214
geneviewrs398123214
scholarrs398123214
googlers398123214
pharmgkbrs398123214
gwascentralrs398123214
openSNPrs398123214
23andMers398123214
SNPshotrs398123214
SNPdbers398123214
MSV3drs398123214
GWAS Ctlgrs398123214
Max Magnitude0
ClinVar
Risk rs398123214(-;-)
Alt rs398123214(-;-)
Reference Rs398123214(C;C)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100655663delG
CLNSRC ClinVar
CLNACC RCV000078285.4,