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rs869025435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025435(-;-)
Make rs869025435(-;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101398546
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs869025435
dbSNP (classic)rs869025435
ClinGenrs869025435
ebirs869025435
HLIrs869025435
Exacrs869025435
Gnomadrs869025435
Varsomers869025435
LitVarrs869025435
Maprs869025435
PheGenIrs869025435
Biobankrs869025435
1000 genomesrs869025435
hgdprs869025435
ensemblrs869025435
geneviewrs869025435
scholarrs869025435
googlers869025435
pharmgkbrs869025435
gwascentralrs869025435
openSNPrs869025435
23andMers869025435
SNPshotrs869025435
SNPdbers869025435
MSV3drs869025435
GWAS Ctlgrs869025435
Max Magnitude0
ClinVar
Risk rs869025435(-;-)
Alt rs869025435(-;-)
Reference Rs869025435(C;C)
Significance Probable-Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653534delG
CLNSRC
CLNACC RCV000208327.1,