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rs140329381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs140329381(C;C)
Make rs140329381(C;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position101398504
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs140329381
dbSNP (classic)rs140329381
ClinGenrs140329381
ebirs140329381
HLIrs140329381
Exacrs140329381
Gnomadrs140329381
Varsomers140329381
LitVarrs140329381
Maprs140329381
PheGenIrs140329381
Biobankrs140329381
1000 genomesrs140329381
hgdprs140329381
ensemblrs140329381
geneviewrs140329381
scholarrs140329381
googlers140329381
pharmgkbrs140329381
gwascentralrs140329381
openSNPrs140329381
23andMers140329381
SNPshotrs140329381
SNPdbers140329381
MSV3drs140329381
GWAS Ctlgrs140329381
Max Magnitude0
ClinVar
Risk rs140329381(A;A) rs140329381(C;C)
Alt rs140329381(A;A) rs140329381(C;C)
Reference Rs140329381(T;T)
Significance Drug-response
Disease Fabry disease Deoxygalactonojirimycin response not specified
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease Deoxygalactonojirimycin response not specified
Reversed 0
HGVS NC_000023.10:g.100653492T>A; NC_000023.10:g.100653492T>C
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000078299.5, RCV000209181.1, RCV000209743.1, RCV000236089.1,