rs104894834

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

101403846

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894834
dbSNP (classic)	rs104894834
ClinGen	rs104894834
ebi	rs104894834
HLI	rs104894834
Exac	rs104894834
Gnomad	rs104894834
Varsome	rs104894834
LitVar	rs104894834
Map	rs104894834
PheGenI	rs104894834
Biobank	rs104894834
1000 genomes	rs104894834
hgdp	rs104894834
ensembl	rs104894834
geneview	rs104894834
scholar	rs104894834
google	rs104894834
pharmgkb	rs104894834
gwascentral	rs104894834
openSNP	rs104894834
23andMe	rs104894834
SNPshot	rs104894834
SNPdbe	rs104894834
MSV3d	rs104894834
GWAS Ctlg	rs104894834

Max Magnitude

6

OMIM	300644
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs104894834(T;T)
Alt	Rs104894834(T;T)
Reference	Rs104894834(C;C)
Significance	Pathogenic
Disease	Fabry disease not provided
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease not provided
Reversed	1
HGVS	NC_000023.10:g.100658834G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011470.7, RCV000078275.6, RCV000482440.1,