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rs28935490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28935490(G;T)
Make rs28935490(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position101398432
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs28935490
ebirs28935490
HLIrs28935490
Exacrs28935490
Varsomers28935490
Maprs28935490
PheGenIrs28935490
hapmaprs28935490
1000 genomesrs28935490
hgdprs28935490
ensemblrs28935490
gopubmedrs28935490
geneviewrs28935490
scholarrs28935490
googlers28935490
pharmgkbrs28935490
gwascentralrs28935490
openSNPrs28935490
23andMers28935490
23andMe allrs28935490
SNP Nexus

SNPshotrs28935490
SNPdbers28935490
MSV3drs28935490
GWAS Ctlgrs28935490
GMAF0.001209
Max Magnitude0
OMIM300644
Desc
Variant0026
Relatedalso


ClinVar
Risk rs28935490(T;T)
Alt rs28935490(T;T)
Reference rs28935490(G;G)
Significance Other
Disease Fabry disease Primary familial hypertrophic cardiomyopathy not specified Sudden unexplained death Deoxygalactonojirimycin response
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease Primary familial hypertrophic cardiomyopathy not specified Sudden unexplained death Deoxygalactonojirimycin response
Reversed 1
HGVS NC_000023.10:g.100653420C>A; NC_000023.10:g.100653420C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011486.6, RCV000029944.1, RCV000035314.3, RCV000172895.3, RCV000209154.1, RCV000209542.1,



[PMID 18154965] Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.

[PMID 19377476OA-icon.png] A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.