rs797045354

Orientation

plus

Stabilized

plus

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

Make rs797045354(G;G)

Make rs797045354(G;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78013063

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045354
dbSNP (classic)	rs797045354
ClinGen	rs797045354
ebi	rs797045354
HLI	rs797045354
Exac	rs797045354
Gnomad	rs797045354
Varsome	rs797045354
LitVar	rs797045354
Map	rs797045354
PheGenI	rs797045354
Biobank	rs797045354
1000 genomes	rs797045354
hgdp	rs797045354
ensembl	rs797045354
geneview	rs797045354
scholar	rs797045354
google	rs797045354
pharmgkb	rs797045354
gwascentral	rs797045354
openSNP	rs797045354
23andMe	rs797045354
SNPshot	rs797045354
SNPdbe	rs797045354
MSV3d	rs797045354
GWAS Ctlg	rs797045354

Max Magnitude

0

ClinVar
Risk	rs797045354(G;G)
Alt	rs797045354(G;G)
Reference	Rs797045354(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.77268560T>G
CLNSRC
CLNACC	RCV000192663.1,