rs797045353

Orientation

plus

Stabilized

plus

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

Make rs797045353(-;-)

Make rs797045353(-;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78013008

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045353
dbSNP (classic)	rs797045353
ClinGen	rs797045353
ebi	rs797045353
HLI	rs797045353
Exac	rs797045353
Gnomad	rs797045353
Varsome	rs797045353
LitVar	rs797045353
Map	rs797045353
PheGenI	rs797045353
Biobank	rs797045353
1000 genomes	rs797045353
hgdp	rs797045353
ensembl	rs797045353
geneview	rs797045353
scholar	rs797045353
google	rs797045353
pharmgkb	rs797045353
gwascentral	rs797045353
openSNP	rs797045353
23andMe	rs797045353
SNPshot	rs797045353
SNPdbe	rs797045353
MSV3d	rs797045353
GWAS Ctlg	rs797045353

Max Magnitude

0

ClinVar
Risk	rs797045353(-;-)
Alt	rs797045353(-;-)
Reference	Rs797045353(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.77268505delG
CLNSRC
CLNACC	RCV000194263.1,