rs797045340

Orientation

plus

Stabilized

plus

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

Make rs797045340(C;C)

Make rs797045340(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011253

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045340
dbSNP (classic)	rs797045340
ClinGen	rs797045340
ebi	rs797045340
HLI	rs797045340
Exac	rs797045340
Gnomad	rs797045340
Varsome	rs797045340
LitVar	rs797045340
Map	rs797045340
PheGenI	rs797045340
Biobank	rs797045340
1000 genomes	rs797045340
hgdp	rs797045340
ensembl	rs797045340
geneview	rs797045340
scholar	rs797045340
google	rs797045340
pharmgkb	rs797045340
gwascentral	rs797045340
openSNP	rs797045340
23andMe	rs797045340
SNPshot	rs797045340
SNPdbe	rs797045340
MSV3d	rs797045340
GWAS Ctlg	rs797045340

Max Magnitude

0

ClinVar
Risk	rs797045340(C;C)
Alt	rs797045340(C;C)
Reference	Rs797045340(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.77266750G>C
CLNSRC
CLNACC	RCV000194275.1,