rs797045347

Orientation

plus

Stabilized

plus

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

Make rs797045347(C;C)

Make rs797045347(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011679

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045347
dbSNP (classic)	rs797045347
ClinGen	rs797045347
ebi	rs797045347
HLI	rs797045347
Exac	rs797045347
Gnomad	rs797045347
Varsome	rs797045347
LitVar	rs797045347
Map	rs797045347
PheGenI	rs797045347
Biobank	rs797045347
1000 genomes	rs797045347
hgdp	rs797045347
ensembl	rs797045347
geneview	rs797045347
scholar	rs797045347
google	rs797045347
pharmgkb	rs797045347
gwascentral	rs797045347
openSNP	rs797045347
23andMe	rs797045347
SNPshot	rs797045347
SNPdbe	rs797045347
MSV3d	rs797045347
GWAS Ctlg	rs797045347

Max Magnitude

0

ClinVar
Risk	rs797045347(C;C)
Alt	rs797045347(C;C)
Reference	Rs797045347(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.77267176G>C
CLNSRC
CLNACC	RCV000193917.1,