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rs28935488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28935488(C;C)
Make rs28935488(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398563
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs28935488
ebirs28935488
HLIrs28935488
Exacrs28935488
Varsomers28935488
Maprs28935488
PheGenIrs28935488
hapmaprs28935488
1000 genomesrs28935488
hgdprs28935488
ensemblrs28935488
gopubmedrs28935488
geneviewrs28935488
scholarrs28935488
googlers28935488
pharmgkbrs28935488
gwascentralrs28935488
openSNPrs28935488
23andMers28935488
23andMe allrs28935488
SNP Nexus

SNPshotrs28935488
SNPdbers28935488
MSV3drs28935488
GWAS Ctlgrs28935488
Max Magnitude0
OMIM300644
Desc
Variant0023
Relatedalso


ClinVar
Risk rs28935488(C;C)
Alt rs28935488(C;C)
Reference rs28935488(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.100653551A>C; NC_000023.10:g.100653551A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000209091.1, RCV000209357.1, RCV000011482.9,