rs104894838

Orientation

minus

Stabilized

minus

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

Make rs104894838(G;G)

Make rs104894838(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101400699

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894838
dbSNP (classic)	rs104894838
ClinGen	rs104894838
ebi	rs104894838
HLI	rs104894838
Exac	rs104894838
Gnomad	rs104894838
Varsome	rs104894838
LitVar	rs104894838
Map	rs104894838
PheGenI	rs104894838
Biobank	rs104894838
1000 genomes	rs104894838
hgdp	rs104894838
ensembl	rs104894838
geneview	rs104894838
scholar	rs104894838
google	rs104894838
pharmgkb	rs104894838
gwascentral	rs104894838
openSNP	rs104894838
23andMe	rs104894838
SNPshot	rs104894838
SNPdbe	rs104894838
MSV3d	rs104894838
GWAS Ctlg	rs104894838

Max Magnitude

0

OMIM	300644
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104894838(G;G)
Alt	rs104894838(G;G)
Reference	Rs104894838(T;T)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100655687A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011476.5,