rs1060500747

Orientation

minus

Stabilized

minus

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

Make rs1060500747(A;A)

Make rs1060500747(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

101398851

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs1060500747
dbSNP (classic)	rs1060500747
ClinGen	rs1060500747
ebi	rs1060500747
HLI	rs1060500747
Exac	rs1060500747
Gnomad	rs1060500747
Varsome	rs1060500747
LitVar	rs1060500747
Map	rs1060500747
PheGenI	rs1060500747
Biobank	rs1060500747
1000 genomes	rs1060500747
hgdp	rs1060500747
ensembl	rs1060500747
geneview	rs1060500747
scholar	rs1060500747
google	rs1060500747
pharmgkb	rs1060500747
gwascentral	rs1060500747
openSNP	rs1060500747
23andMe	rs1060500747
SNPshot	rs1060500747
SNPdbe	rs1060500747
MSV3d	rs1060500747
GWAS Ctlg	rs1060500747

Max Magnitude

0

ClinVar
Risk	rs1060500747(A;A)
Alt	rs1060500747(A;A)
Reference	Rs1060500747(G;G)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653839C>T
CLNSRC
CLNACC	RCV000475829.1,