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rs797044670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCTA;GCTA) 0 common in clinvar
Make rs797044670(-;-)
Make rs797044670(-;GCTA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101403816
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs797044670
dbSNP (classic)rs797044670
ClinGenrs797044670
ebirs797044670
HLIrs797044670
Exacrs797044670
Gnomadrs797044670
Varsomers797044670
LitVarrs797044670
Maprs797044670
PheGenIrs797044670
Biobankrs797044670
1000 genomesrs797044670
hgdprs797044670
ensemblrs797044670
geneviewrs797044670
scholarrs797044670
googlers797044670
pharmgkbrs797044670
gwascentralrs797044670
openSNPrs797044670
23andMers797044670
SNPshotrs797044670
SNPdbers797044670
MSV3drs797044670
GWAS Ctlgrs797044670
Max Magnitude0
ClinVar
Risk rs797044670(-;-)
Alt rs797044670(-;-)
Reference Rs797044670(GCTA;GCTA)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100658804_100658807delTAGC
CLNSRC
CLNACC RCV000175539.2,