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rs797044768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044768(C;T)
Make rs797044768(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101398453
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs797044768
dbSNP (classic)rs797044768
ClinGenrs797044768
ebirs797044768
HLIrs797044768
Exacrs797044768
Gnomadrs797044768
Varsomers797044768
LitVarrs797044768
Maprs797044768
PheGenIrs797044768
Biobankrs797044768
1000 genomesrs797044768
hgdprs797044768
ensemblrs797044768
geneviewrs797044768
scholarrs797044768
googlers797044768
pharmgkbrs797044768
gwascentralrs797044768
openSNPrs797044768
23andMers797044768
SNPshotrs797044768
SNPdbers797044768
MSV3drs797044768
GWAS Ctlgrs797044768
Max Magnitude0
ClinVar
Risk rs797044768(T;T)
Alt rs797044768(T;T)
Reference Rs797044768(C;C)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653441G>A
CLNSRC
CLNACC RCV000179266.1,