rs398123224

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398468

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs398123224
dbSNP (classic)	rs398123224
ClinGen	rs398123224
ebi	rs398123224
HLI	rs398123224
Exac	rs398123224
Gnomad	rs398123224
Varsome	rs398123224
LitVar	rs398123224
Map	rs398123224
PheGenI	rs398123224
Biobank	rs398123224
1000 genomes	rs398123224
hgdp	rs398123224
ensembl	rs398123224
geneview	rs398123224
scholar	rs398123224
google	rs398123224
pharmgkb	rs398123224
gwascentral	rs398123224
openSNP	rs398123224
23andMe	rs398123224
SNPshot	rs398123224
SNPdbe	rs398123224
MSV3d	rs398123224
GWAS Ctlg	rs398123224

Max Magnitude

6

ClinVar
Risk	rs398123224(G;G) Rs398123224(T;T)
Alt	rs398123224(G;G) Rs398123224(T;T)
Reference	Rs398123224(C;C)
Significance	Pathogenic
Disease	Fabry disease not provided not specified
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease not provided not specified
Reversed	1
HGVS	NC_000023.10:g.100653456G>A; NC_000023.10:g.100653456G>C
CLNSRC	HGMD
CLNACC	RCV000078301.6, RCV000157879.2, RCV000156338.1,