rs113173389

Orientation

minus

Stabilized

minus

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

Make rs113173389(A;A)

Make rs113173389(A;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

101403899

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs113173389
dbSNP (classic)	rs113173389
ClinGen	rs113173389
ebi	rs113173389
HLI	rs113173389
Exac	rs113173389
Gnomad	rs113173389
Varsome	rs113173389
LitVar	rs113173389
Map	rs113173389
PheGenI	rs113173389
Biobank	rs113173389
1000 genomes	rs113173389
hgdp	rs113173389
ensembl	rs113173389
geneview	rs113173389
scholar	rs113173389
google	rs113173389
pharmgkb	rs113173389
gwascentral	rs113173389
openSNP	rs113173389
23andMe	rs113173389
SNPshot	rs113173389
SNPdbe	rs113173389
MSV3d	rs113173389
GWAS Ctlg	rs113173389

Max Magnitude

0

ClinVar
Risk	rs113173389(A;A)
Alt	rs113173389(A;A)
Reference	Rs113173389(G;G)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100658887C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078274.6,