rs797045351

Orientation

plus

Stabilized

plus

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

Make rs797045351(A;A)

Make rs797045351(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78012893

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045351
dbSNP (classic)	rs797045351
ClinGen	rs797045351
ebi	rs797045351
HLI	rs797045351
Exac	rs797045351
Gnomad	rs797045351
Varsome	rs797045351
LitVar	rs797045351
Map	rs797045351
PheGenI	rs797045351
Biobank	rs797045351
1000 genomes	rs797045351
hgdp	rs797045351
ensembl	rs797045351
geneview	rs797045351
scholar	rs797045351
google	rs797045351
pharmgkb	rs797045351
gwascentral	rs797045351
openSNP	rs797045351
23andMe	rs797045351
SNPshot	rs797045351
SNPdbe	rs797045351
MSV3d	rs797045351
GWAS Ctlg	rs797045351

Max Magnitude

0

ClinVar
Risk	rs797045351(A;A)
Alt	rs797045351(A;A)
Reference	Rs797045351(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.77268390G>A
CLNSRC
CLNACC	RCV000194105.1,