rs797045372

Orientation

plus

Stabilized

plus

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

Make rs797045372(G;G)

Make rs797045372(G;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78031573

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045372
dbSNP (classic)	rs797045372
ClinGen	rs797045372
ebi	rs797045372
HLI	rs797045372
Exac	rs797045372
Gnomad	rs797045372
Varsome	rs797045372
LitVar	rs797045372
Map	rs797045372
PheGenI	rs797045372
Biobank	rs797045372
1000 genomes	rs797045372
hgdp	rs797045372
ensembl	rs797045372
geneview	rs797045372
scholar	rs797045372
google	rs797045372
pharmgkb	rs797045372
gwascentral	rs797045372
openSNP	rs797045372
23andMe	rs797045372
SNPshot	rs797045372
SNPdbe	rs797045372
MSV3d	rs797045372
GWAS Ctlg	rs797045372

Max Magnitude

0

ClinVar
Risk	rs797045372(G;G)
Alt	rs797045372(G;G)
Reference	Rs797045372(T;T)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77287071T>G
CLNSRC
CLNACC	RCV000193509.1,