rs797044499

Orientation

minus

Stabilized

minus

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

Make rs797044499(A;G)

Make rs797044499(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

101398569

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs797044499
dbSNP (classic)	rs797044499
ClinGen	rs797044499
ebi	rs797044499
HLI	rs797044499
Exac	rs797044499
Gnomad	rs797044499
Varsome	rs797044499
LitVar	rs797044499
Map	rs797044499
PheGenI	rs797044499
Biobank	rs797044499
1000 genomes	rs797044499
hgdp	rs797044499
ensembl	rs797044499
geneview	rs797044499
scholar	rs797044499
google	rs797044499
pharmgkb	rs797044499
gwascentral	rs797044499
openSNP	rs797044499
23andMe	rs797044499
SNPshot	rs797044499
SNPdbe	rs797044499
MSV3d	rs797044499
GWAS Ctlg	rs797044499

Max Magnitude

6

ClinVar
Risk	rs797044499(G;G)
Alt	rs797044499(G;G)
Reference	Rs797044499(A;A)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653557T>C
CLNSRC	HGMD
CLNACC	RCV000153318.3,