rs104894843

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

101398075

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894843
dbSNP (classic)	rs104894843
ClinGen	rs104894843
ebi	rs104894843
HLI	rs104894843
Exac	rs104894843
Gnomad	rs104894843
Varsome	rs104894843
LitVar	rs104894843
Map	rs104894843
PheGenI	rs104894843
Biobank	rs104894843
1000 genomes	rs104894843
hgdp	rs104894843
ensembl	rs104894843
geneview	rs104894843
scholar	rs104894843
google	rs104894843
pharmgkb	rs104894843
gwascentral	rs104894843
openSNP	rs104894843
23andMe	rs104894843
SNPshot	rs104894843
SNPdbe	rs104894843
MSV3d	rs104894843
GWAS Ctlg	rs104894843

Max Magnitude

6

OMIM	300644
Desc
Variant	0031
Related	also

ClinVar
Risk	rs104894843(G;G) Rs104894843(T;T)
Alt	rs104894843(G;G) Rs104894843(T;T)
Reference	Rs104894843(C;C)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653063G>A; NC_000023.10:g.100653063G>C
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000011491.11, RCV000153315.5,