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rs727505292

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727505292(C;C)
Make rs727505292(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101398828
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs727505292
dbSNP (classic)rs727505292
ClinGenrs727505292
ebirs727505292
HLIrs727505292
Exacrs727505292
Gnomadrs727505292
Varsomers727505292
LitVarrs727505292
Maprs727505292
PheGenIrs727505292
Biobankrs727505292
1000 genomesrs727505292
hgdprs727505292
ensemblrs727505292
geneviewrs727505292
scholarrs727505292
googlers727505292
pharmgkbrs727505292
gwascentralrs727505292
openSNPrs727505292
23andMers727505292
SNPshotrs727505292
SNPdbers727505292
MSV3drs727505292
GWAS Ctlgrs727505292
Max Magnitude0
ClinVar
Risk rs727505292(C;C)
Alt rs727505292(C;C)
Reference Rs727505292(T;T)
Significance Drug-response
Disease not specified Fabry disease Deoxygalactonojirimycin response
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN not specified Fabry disease Deoxygalactonojirimycin response
Reversed 1
HGVS NC_000023.10:g.100653816A>G
CLNSRC
CLNACC RCV000156824.1, RCV000209022.1, RCV000209285.1,