rs797044727

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	Carrier of a Fabry disease mutation; X-linked so risk is to sons
(C;C)	6	Fabry disease

Make rs797044727(A;G)

Make rs797044727(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

101400685

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs797044727
dbSNP (classic)	rs797044727
ClinGen	rs797044727
ebi	rs797044727
HLI	rs797044727
Exac	rs797044727
Gnomad	rs797044727
Varsome	rs797044727
LitVar	rs797044727
Map	rs797044727
PheGenI	rs797044727
Biobank	rs797044727
1000 genomes	rs797044727
hgdp	rs797044727
ensembl	rs797044727
geneview	rs797044727
scholar	rs797044727
google	rs797044727
pharmgkb	rs797044727
gwascentral	rs797044727
openSNP	rs797044727
23andMe	rs797044727
SNPshot	rs797044727
SNPdbe	rs797044727
MSV3d	rs797044727
GWAS Ctlg	rs797044727

Max Magnitude

6

ClinVar
Risk	rs797044727(G;G)
Alt	rs797044727(G;G)
Reference	Rs797044727(A;A)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100655673T>C
CLNSRC
CLNACC	RCV000178050.1,