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rs781927744

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs781927744(C;C)
Make rs781927744(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101403968
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs781927744
dbSNP (classic)rs781927744
ClinGenrs781927744
ebirs781927744
HLIrs781927744
Exacrs781927744
Gnomadrs781927744
Varsomers781927744
LitVarrs781927744
Maprs781927744
PheGenIrs781927744
Biobankrs781927744
1000 genomesrs781927744
hgdprs781927744
ensemblrs781927744
geneviewrs781927744
scholarrs781927744
googlers781927744
pharmgkbrs781927744
gwascentralrs781927744
openSNPrs781927744
23andMers781927744
SNPshotrs781927744
SNPdbers781927744
MSV3drs781927744
GWAS Ctlgrs781927744
Max Magnitude0
ClinVar
Risk rs781927744(C;C)
Alt rs781927744(C;C)
Reference Rs781927744(T;T)
Significance Drug-response
Disease Deoxygalactonojirimycin response Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Deoxygalactonojirimycin response Fabry disease
Reversed 0
HGVS NC_000023.10:g.100658956T>C
CLNSRC
CLNACC RCV000209041.1, RCV000209598.1,