rs797045386

Orientation

plus

Stabilized

plus

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

Make rs797045386(G;T)

Make rs797045386(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78040734

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045386
dbSNP (classic)	rs797045386
ClinGen	rs797045386
ebi	rs797045386
HLI	rs797045386
Exac	rs797045386
Gnomad	rs797045386
Varsome	rs797045386
LitVar	rs797045386
Map	rs797045386
PheGenI	rs797045386
Biobank	rs797045386
1000 genomes	rs797045386
hgdp	rs797045386
ensembl	rs797045386
geneview	rs797045386
scholar	rs797045386
google	rs797045386
pharmgkb	rs797045386
gwascentral	rs797045386
openSNP	rs797045386
23andMe	rs797045386
SNPshot	rs797045386
SNPdbe	rs797045386
MSV3d	rs797045386
GWAS Ctlg	rs797045386

Max Magnitude

0

ClinVar
Risk	rs797045386(T;T)
Alt	rs797045386(T;T)
Reference	Rs797045386(G;G)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77296232G>T
CLNSRC
CLNACC	RCV000194924.1,