rs104894829

Orientation

minus

Stabilized

minus

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

Make rs104894829(A;A)

Make rs104894829(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101407773

Gene	GLA, HNRNPH2, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894829
dbSNP (classic)	rs104894829
ClinGen	rs104894829
ebi	rs104894829
HLI	rs104894829
Exac	rs104894829
Gnomad	rs104894829
Varsome	rs104894829
LitVar	rs104894829
Map	rs104894829
PheGenI	rs104894829
Biobank	rs104894829
1000 genomes	rs104894829
hgdp	rs104894829
ensembl	rs104894829
geneview	rs104894829
scholar	rs104894829
google	rs104894829
pharmgkb	rs104894829
gwascentral	rs104894829
openSNP	rs104894829
23andMe	rs104894829
SNPshot	rs104894829
SNPdbe	rs104894829
MSV3d	rs104894829
GWAS Ctlg	rs104894829

Max Magnitude

0

OMIM	300644
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894829(A;A)
Alt	rs104894829(A;A)
Reference	Rs104894829(G;G)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100662761C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011463.5,