rs104894837

Orientation

minus

Stabilized

minus

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

Make rs104894837(C;T)

Make rs104894837(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101401743

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894837
dbSNP (classic)	rs104894837
ClinGen	rs104894837
ebi	rs104894837
HLI	rs104894837
Exac	rs104894837
Gnomad	rs104894837
Varsome	rs104894837
LitVar	rs104894837
Map	rs104894837
PheGenI	rs104894837
Biobank	rs104894837
1000 genomes	rs104894837
hgdp	rs104894837
ensembl	rs104894837
geneview	rs104894837
scholar	rs104894837
google	rs104894837
pharmgkb	rs104894837
gwascentral	rs104894837
openSNP	rs104894837
23andMe	rs104894837
SNPshot	rs104894837
SNPdbe	rs104894837
MSV3d	rs104894837
GWAS Ctlg	rs104894837

Max Magnitude

0

OMIM	300644
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104894837(T;T)
Alt	rs104894837(T;T)
Reference	Rs104894837(C;C)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100656731G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011473.6,