rs28935491

Orientation

minus

Stabilized

minus

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

Make rs28935491(A;A)

Make rs28935491(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398390

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs28935491
dbSNP (classic)	rs28935491
ClinGen	rs28935491
ebi	rs28935491
HLI	rs28935491
Exac	rs28935491
Gnomad	rs28935491
Varsome	rs28935491
LitVar	rs28935491
Map	rs28935491
PheGenI	rs28935491
Biobank	rs28935491
1000 genomes	rs28935491
hgdp	rs28935491
ensembl	rs28935491
geneview	rs28935491
scholar	rs28935491
google	rs28935491
pharmgkb	rs28935491
gwascentral	rs28935491
openSNP	rs28935491
23andMe	rs28935491
SNPshot	rs28935491
SNPdbe	rs28935491
MSV3d	rs28935491
GWAS Ctlg	rs28935491

Max Magnitude

0

OMIM	300644
Desc
Variant	0027
Related	also

ClinVar
Risk	rs28935491(A;A)
Alt	rs28935491(A;A)
Reference	Rs28935491(C;C)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653378G>A; NC_000023.10:g.100653378G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000399330.1, RCV000011487.2,