rs1057516429

Orientation

minus

Stabilized

minus

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

Make rs1057516429(A;T)

Make rs1057516429(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

101403936

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs1057516429
dbSNP (classic)	rs1057516429
ClinGen	rs1057516429
ebi	rs1057516429
HLI	rs1057516429
Exac	rs1057516429
Gnomad	rs1057516429
Varsome	rs1057516429
LitVar	rs1057516429
Map	rs1057516429
PheGenI	rs1057516429
Biobank	rs1057516429
1000 genomes	rs1057516429
hgdp	rs1057516429
ensembl	rs1057516429
geneview	rs1057516429
scholar	rs1057516429
google	rs1057516429
pharmgkb	rs1057516429
gwascentral	rs1057516429
openSNP	rs1057516429
23andMe	rs1057516429
SNPshot	rs1057516429
SNPdbe	rs1057516429
MSV3d	rs1057516429
GWAS Ctlg	rs1057516429

Max Magnitude

0

ClinVar
Risk	rs1057516429(T;T)
Alt	rs1057516429(T;T)
Reference	Rs1057516429(A;A)
Significance	Probable-Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100658924T>A
CLNSRC
CLNACC	RCV000411879.1,