rs104894848

Orientation

minus

Stabilized

minus

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

Make rs104894848(C;C)

Make rs104894848(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101407710

Gene	GLA, HNRNPH2, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894848
dbSNP (classic)	rs104894848
ClinGen	rs104894848
ebi	rs104894848
HLI	rs104894848
Exac	rs104894848
Gnomad	rs104894848
Varsome	rs104894848
LitVar	rs104894848
Map	rs104894848
PheGenI	rs104894848
Biobank	rs104894848
1000 genomes	rs104894848
hgdp	rs104894848
ensembl	rs104894848
geneview	rs104894848
scholar	rs104894848
google	rs104894848
pharmgkb	rs104894848
gwascentral	rs104894848
openSNP	rs104894848
23andMe	rs104894848
SNPshot	rs104894848
SNPdbe	rs104894848
MSV3d	rs104894848
GWAS Ctlg	rs104894848

Max Magnitude

0

OMIM	300644
Desc
Variant	0054
Related	also

ClinVar
Risk	rs104894848(C;C)
Alt	rs104894848(C;C)
Reference	Rs104894848(G;G)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	HNRNPH2 RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100662698C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011513.8,