rs797045350

Orientation

plus

Stabilized

plus

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

Make rs797045350(A;A)

Make rs797045350(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78012889

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045350
dbSNP (classic)	rs797045350
ClinGen	rs797045350
ebi	rs797045350
HLI	rs797045350
Exac	rs797045350
Gnomad	rs797045350
Varsome	rs797045350
LitVar	rs797045350
Map	rs797045350
PheGenI	rs797045350
Biobank	rs797045350
1000 genomes	rs797045350
hgdp	rs797045350
ensembl	rs797045350
geneview	rs797045350
scholar	rs797045350
google	rs797045350
pharmgkb	rs797045350
gwascentral	rs797045350
openSNP	rs797045350
23andMe	rs797045350
SNPshot	rs797045350
SNPdbe	rs797045350
MSV3d	rs797045350
GWAS Ctlg	rs797045350

Max Magnitude

0

ClinVar
Risk	rs797045350(A;A)
Alt	rs797045350(A;A)
Reference	Rs797045350(G;G)
Significance	Probable-Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77268386G>A
CLNSRC
CLNACC	RCV000193058.1,