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rs869312134

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312134(A;A)
Make rs869312134(A;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101407845
GeneGLA, HNRNPH2, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs869312134
ebirs869312134
HLIrs869312134
Exacrs869312134
Varsomers869312134
Maprs869312134
PheGenIrs869312134
hapmaprs869312134
1000 genomesrs869312134
hgdprs869312134
ensemblrs869312134
gopubmedrs869312134
geneviewrs869312134
scholarrs869312134
googlers869312134
pharmgkbrs869312134
gwascentralrs869312134
openSNPrs869312134
23andMers869312134
23andMe allrs869312134
SNP Nexus

SNPshotrs869312134
SNPdbers869312134
MSV3drs869312134
GWAS Ctlgrs869312134
Max Magnitude0
ClinVar
Risk rs869312134(A;A)
Alt rs869312134(A;A)
Reference rs869312134(C;C)
Significance Drug-response
Disease Deoxygalactonojirimycin response Fabry disease
Variation info
Gene HNRNPH2 RPL36A-HNRNPH2 GLA
CLNDBN Deoxygalactonojirimycin response Fabry disease
Reversed 1
HGVS NC_000023.10:g.100662833G>T
CLNSRC
CLNACC RCV000208891.1, RCV000209573.1,