rs727503948

Orientation

minus

Stabilized

minus

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

Make rs727503948(A;A)

Make rs727503948(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

101398856

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs727503948
dbSNP (classic)	rs727503948
ClinGen	rs727503948
ebi	rs727503948
HLI	rs727503948
Exac	rs727503948
Gnomad	rs727503948
Varsome	rs727503948
LitVar	rs727503948
Map	rs727503948
PheGenI	rs727503948
Biobank	rs727503948
1000 genomes	rs727503948
hgdp	rs727503948
ensembl	rs727503948
geneview	rs727503948
scholar	rs727503948
google	rs727503948
pharmgkb	rs727503948
gwascentral	rs727503948
openSNP	rs727503948
23andMe	rs727503948
SNPshot	rs727503948
SNPdbe	rs727503948
MSV3d	rs727503948
GWAS Ctlg	rs727503948

Max Magnitude

0

ClinVar
Risk	rs727503948(A;A)
Alt	rs727503948(A;A)
Reference	Rs727503948(G;G)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653844C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000153319.3,