rs797045342

Orientation

plus

Stabilized

plus

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

Make rs797045342(A;A)

Make rs797045342(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011452

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045342
dbSNP (classic)	rs797045342
ClinGen	rs797045342
ebi	rs797045342
HLI	rs797045342
Exac	rs797045342
Gnomad	rs797045342
Varsome	rs797045342
LitVar	rs797045342
Map	rs797045342
PheGenI	rs797045342
Biobank	rs797045342
1000 genomes	rs797045342
hgdp	rs797045342
ensembl	rs797045342
geneview	rs797045342
scholar	rs797045342
google	rs797045342
pharmgkb	rs797045342
gwascentral	rs797045342
openSNP	rs797045342
23andMe	rs797045342
SNPshot	rs797045342
SNPdbe	rs797045342
MSV3d	rs797045342
GWAS Ctlg	rs797045342

Max Magnitude

0

ClinVar
Risk	rs797045342(A;A)
Alt	rs797045342(A;A)
Reference	Rs797045342(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.77266949G>A
CLNSRC
CLNACC	RCV000194429.1,