rs797045393

Orientation

plus

Stabilized

plus

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

Make rs797045393(A;A)

Make rs797045393(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78043435

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045393
dbSNP (classic)	rs797045393
ClinGen	rs797045393
ebi	rs797045393
HLI	rs797045393
Exac	rs797045393
Gnomad	rs797045393
Varsome	rs797045393
LitVar	rs797045393
Map	rs797045393
PheGenI	rs797045393
Biobank	rs797045393
1000 genomes	rs797045393
hgdp	rs797045393
ensembl	rs797045393
geneview	rs797045393
scholar	rs797045393
google	rs797045393
pharmgkb	rs797045393
gwascentral	rs797045393
openSNP	rs797045393
23andMe	rs797045393
SNPshot	rs797045393
SNPdbe	rs797045393
MSV3d	rs797045393
GWAS Ctlg	rs797045393

Max Magnitude

0

ClinVar
Risk	rs797045393(A;A)
Alt	rs797045393(A;A)
Reference	Rs797045393(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.77298933G>A
CLNSRC
CLNACC	RCV000193682.1,