rs797045332

Orientation

plus

Stabilized

plus

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

Make rs797045332(C;T)

Make rs797045332(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78003168

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045332
dbSNP (classic)	rs797045332
ClinGen	rs797045332
ebi	rs797045332
HLI	rs797045332
Exac	rs797045332
Gnomad	rs797045332
Varsome	rs797045332
LitVar	rs797045332
Map	rs797045332
PheGenI	rs797045332
Biobank	rs797045332
1000 genomes	rs797045332
hgdp	rs797045332
ensembl	rs797045332
geneview	rs797045332
scholar	rs797045332
google	rs797045332
pharmgkb	rs797045332
gwascentral	rs797045332
openSNP	rs797045332
23andMe	rs797045332
SNPshot	rs797045332
SNPdbe	rs797045332
MSV3d	rs797045332
GWAS Ctlg	rs797045332

Max Magnitude

0

ClinVar
Risk	rs797045332(T;T)
Alt	rs797045332(T;T)
Reference	Rs797045332(C;C)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77258665C>T
CLNSRC
CLNACC	RCV000194736.1,