rs730880450

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6	Fabry disease
(A;G)	3	Carrier of a Fabry disease mutation; X-linked so risk is to sons
(G;G)	0	common in clinvar

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

101398873

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs730880450
dbSNP (classic)	rs730880450
ClinGen	rs730880450
ebi	rs730880450
HLI	rs730880450
Exac	rs730880450
Gnomad	rs730880450
Varsome	rs730880450
LitVar	rs730880450
Map	rs730880450
PheGenI	rs730880450
Biobank	rs730880450
1000 genomes	rs730880450
hgdp	rs730880450
ensembl	rs730880450
geneview	rs730880450
scholar	rs730880450
google	rs730880450
pharmgkb	rs730880450
gwascentral	rs730880450
openSNP	rs730880450
23andMe	rs730880450
SNPshot	rs730880450
SNPdbe	rs730880450
MSV3d	rs730880450
GWAS Ctlg	rs730880450

Max Magnitude

6

ClinVar
Risk	Rs730880450(A;A)
Alt	Rs730880450(A;A)
Reference	Rs730880450(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	not provided
Reversed	1
HGVS	NC_000023.10:g.100653861C>T
CLNSRC	University of Rostock
CLNACC	RCV000157899.2,