rs28935495

Orientation

minus

Stabilized

minus

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

Make rs28935495(A;G)

Make rs28935495(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398554

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs28935495
dbSNP (classic)	rs28935495
ClinGen	rs28935495
ebi	rs28935495
HLI	rs28935495
Exac	rs28935495
Gnomad	rs28935495
Varsome	rs28935495
LitVar	rs28935495
Map	rs28935495
PheGenI	rs28935495
Biobank	rs28935495
1000 genomes	rs28935495
hgdp	rs28935495
ensembl	rs28935495
geneview	rs28935495
scholar	rs28935495
google	rs28935495
pharmgkb	rs28935495
gwascentral	rs28935495
openSNP	rs28935495
23andMe	rs28935495
SNPshot	rs28935495
SNPdbe	rs28935495
MSV3d	rs28935495
GWAS Ctlg	rs28935495

Max Magnitude

0

OMIM	300644
Desc
Variant	0062
Related	also

ClinVar
Risk	rs28935495(G;G)
Alt	rs28935495(G;G)
Reference	Rs28935495(A;A)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653542T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011521.2,