rs104894833

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104894833(C;C)

Make rs104894833(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101403984

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894833
dbSNP (classic)	rs104894833
ClinGen	rs104894833
ebi	rs104894833
HLI	rs104894833
Exac	rs104894833
Gnomad	rs104894833
Varsome	rs104894833
LitVar	rs104894833
Map	rs104894833
PheGenI	rs104894833
Biobank	rs104894833
1000 genomes	rs104894833
hgdp	rs104894833
ensembl	rs104894833
geneview	rs104894833
scholar	rs104894833
google	rs104894833
pharmgkb	rs104894833
gwascentral	rs104894833
openSNP	rs104894833
23andMe	rs104894833
SNPshot	rs104894833
SNPdbe	rs104894833
MSV3d	rs104894833
GWAS Ctlg	rs104894833

GMAF

0.0

Max Magnitude

0

OMIM	300644
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894833(C;C)
Alt	rs104894833(C;C)
Reference	Rs104894833(G;G)
Significance	Pathogenic
Disease	Fabry disease not specified
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease not specified
Reversed	1
HGVS	NC_000023.10:g.100658972C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011470.7, RCV000150750.2,