rs104894836

Orientation

minus

Stabilized

minus

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

Make rs104894836(G;G)

Make rs104894836(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101407738

Gene	GLA, HNRNPH2, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894836
dbSNP (classic)	rs104894836
ClinGen	rs104894836
ebi	rs104894836
HLI	rs104894836
Exac	rs104894836
Gnomad	rs104894836
Varsome	rs104894836
LitVar	rs104894836
Map	rs104894836
PheGenI	rs104894836
Biobank	rs104894836
1000 genomes	rs104894836
hgdp	rs104894836
ensembl	rs104894836
geneview	rs104894836
scholar	rs104894836
google	rs104894836
pharmgkb	rs104894836
gwascentral	rs104894836
openSNP	rs104894836
23andMe	rs104894836
SNPshot	rs104894836
SNPdbe	rs104894836
MSV3d	rs104894836
GWAS Ctlg	rs104894836

Max Magnitude

0

OMIM	300644
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104894836(G;G)
Alt	rs104894836(G;G)
Reference	Rs104894836(T;T)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	HNRNPH2 RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100662726A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011472.4,