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rs797044748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044748(A;G)
Make rs797044748(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101398782
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs797044748
dbSNP (classic)rs797044748
ClinGenrs797044748
ebirs797044748
HLIrs797044748
Exacrs797044748
Gnomadrs797044748
Varsomers797044748
LitVarrs797044748
Maprs797044748
PheGenIrs797044748
Biobankrs797044748
1000 genomesrs797044748
hgdprs797044748
ensemblrs797044748
geneviewrs797044748
scholarrs797044748
googlers797044748
pharmgkbrs797044748
gwascentralrs797044748
openSNPrs797044748
23andMers797044748
SNPshotrs797044748
SNPdbers797044748
MSV3drs797044748
GWAS Ctlgrs797044748
Max Magnitude0
ClinVar
Risk rs797044748(G;G)
Alt rs797044748(G;G)
Reference Rs797044748(A;A)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653770T>C
CLNSRC University of Rostock
CLNACC RCV000178725.3,