rs104894832

Orientation

minus

Stabilized

minus

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

Make rs104894832(A;A)

Make rs104894832(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398387

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894832
dbSNP (classic)	rs104894832
ClinGen	rs104894832
ebi	rs104894832
HLI	rs104894832
Exac	rs104894832
Gnomad	rs104894832
Varsome	rs104894832
LitVar	rs104894832
Map	rs104894832
PheGenI	rs104894832
Biobank	rs104894832
1000 genomes	rs104894832
hgdp	rs104894832
ensembl	rs104894832
geneview	rs104894832
scholar	rs104894832
google	rs104894832
pharmgkb	rs104894832
gwascentral	rs104894832
openSNP	rs104894832
23andMe	rs104894832
SNPshot	rs104894832
SNPdbe	rs104894832
MSV3d	rs104894832
GWAS Ctlg	rs104894832

Max Magnitude

0

OMIM	300644
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894832(A;A) rs104894832(C;C)
Alt	rs104894832(A;A) rs104894832(C;C)
Reference	Rs104894832(G;G)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653375C>G; NC_000023.10:g.100653375C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000179268.3, RCV000011469.5,