rs797045399

Orientation

plus

Stabilized

plus

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

Make rs797045399(C;T)

Make rs797045399(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

77988719

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045399
dbSNP (classic)	rs797045399
ClinGen	rs797045399
ebi	rs797045399
HLI	rs797045399
Exac	rs797045399
Gnomad	rs797045399
Varsome	rs797045399
LitVar	rs797045399
Map	rs797045399
PheGenI	rs797045399
Biobank	rs797045399
1000 genomes	rs797045399
hgdp	rs797045399
ensembl	rs797045399
geneview	rs797045399
scholar	rs797045399
google	rs797045399
pharmgkb	rs797045399
gwascentral	rs797045399
openSNP	rs797045399
23andMe	rs797045399
SNPshot	rs797045399
SNPdbe	rs797045399
MSV3d	rs797045399
GWAS Ctlg	rs797045399

Max Magnitude

0

ClinVar
Risk	rs797045399(T;T)
Alt	rs797045399(T;T)
Reference	Rs797045399(C;C)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77244215C>T
CLNSRC
CLNACC	RCV000194247.1,