rs104894831

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

101407786

Gene	GLA, HNRNPH2, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894831
dbSNP (classic)	rs104894831
ClinGen	rs104894831
ebi	rs104894831
HLI	rs104894831
Exac	rs104894831
Gnomad	rs104894831
Varsome	rs104894831
LitVar	rs104894831
Map	rs104894831
PheGenI	rs104894831
Biobank	rs104894831
1000 genomes	rs104894831
hgdp	rs104894831
ensembl	rs104894831
geneview	rs104894831
scholar	rs104894831
google	rs104894831
pharmgkb	rs104894831
gwascentral	rs104894831
openSNP	rs104894831
23andMe	rs104894831
SNPshot	rs104894831
SNPdbe	rs104894831
MSV3d	rs104894831
GWAS Ctlg	rs104894831

Max Magnitude

6

OMIM	300644
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs104894831(T;T)
Alt	Rs104894831(T;T)
Reference	Rs104894831(C;C)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100662774G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011466.9,