rs28935490

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs28935490(G;T)

Make rs28935490(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

101398432

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs28935490
dbSNP (classic)	rs28935490
ClinGen	rs28935490
ebi	rs28935490
HLI	rs28935490
Exac	rs28935490
Gnomad	rs28935490
Varsome	rs28935490
LitVar	rs28935490
Map	rs28935490
PheGenI	rs28935490
Biobank	rs28935490
1000 genomes	rs28935490
hgdp	rs28935490
ensembl	rs28935490
geneview	rs28935490
scholar	rs28935490
google	rs28935490
pharmgkb	rs28935490
gwascentral	rs28935490
openSNP	rs28935490
23andMe	rs28935490
SNPshot	rs28935490
SNPdbe	rs28935490
MSV3d	rs28935490
GWAS Ctlg	rs28935490

GMAF

0.001209

Max Magnitude

0

OMIM	300644
Desc
Variant	0026
Related	also

ClinVar
Risk	rs28935490(A;A) rs28935490(T;T)
Alt	rs28935490(A;A) rs28935490(T;T)
Reference	Rs28935490(G;G)
Significance	Other
Disease	Fabry disease Primary familial hypertrophic cardiomyopathy not specified Sudden unexplained death Cardiovascular phenotype Hypertrophic cardiomyopathy not provided Deoxygalactonojirimycin response
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease Primary familial hypertrophic cardiomyopathy not specified Sudden unexplained death Cardiovascular phenotype Hypertrophic cardiomyopathy not provided Deoxygalactonojirimycin response
Reversed	1
HGVS	NC_000023.10:g.100653420C>A; NC_000023.10:g.100653420C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011486.7, RCV000029944.1, RCV000035314.4, RCV000172895.3, RCV000250525.1, RCV000346926.1, RCV000487818.1, RCV000209154.1, RCV000209542.1,

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

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