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rs878853698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 3 Carrier of a Fabry disease mutation; X-linked so risk is to sons
(C;T) 3 Carrier of a Fabry disease mutation; X-linked so risk is to sons
(G;G) 6 Fabry disease
(T;T) 6 Fabry disease
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101397874
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs878853698
dbSNP (classic)rs878853698
ClinGenrs878853698
ebirs878853698
HLIrs878853698
Exacrs878853698
Gnomadrs878853698
Varsomers878853698
LitVarrs878853698
Maprs878853698
PheGenIrs878853698
Biobankrs878853698
1000 genomesrs878853698
hgdprs878853698
ensemblrs878853698
geneviewrs878853698
scholarrs878853698
googlers878853698
pharmgkbrs878853698
gwascentralrs878853698
openSNPrs878853698
23andMers878853698
SNPshotrs878853698
SNPdbers878853698
MSV3drs878853698
GWAS Ctlgrs878853698
Max Magnitude6
ClinVar
Risk Rs878853698(T;T)
Alt Rs878853698(T;T)
Reference Rs878853698(C;C)
Significance Probable-Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100652862G>A
CLNSRC
CLNACC RCV000226316.2,