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rs869312143

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312143(C;C)
Make rs869312143(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101401718
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs869312143
ebirs869312143
HLIrs869312143
Exacrs869312143
Varsomers869312143
Maprs869312143
PheGenIrs869312143
hapmaprs869312143
1000 genomesrs869312143
hgdprs869312143
ensemblrs869312143
gopubmedrs869312143
geneviewrs869312143
scholarrs869312143
googlers869312143
pharmgkbrs869312143
gwascentralrs869312143
openSNPrs869312143
23andMers869312143
23andMe allrs869312143
SNP Nexus

SNPshotrs869312143
SNPdbers869312143
MSV3drs869312143
GWAS Ctlgrs869312143
Max Magnitude0
ClinVar
Risk rs869312143(C;C)
Alt rs869312143(C;C)
Reference rs869312143(T;T)
Significance Drug-response
Disease Fabry disease Deoxygalactonojirimycin response
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease Deoxygalactonojirimycin response
Reversed 1
HGVS NC_000023.10:g.100656706A>G
CLNSRC
CLNACC RCV000208908.1, RCV000209298.1,