rs797045379

Orientation

plus

Stabilized

plus

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

Make rs797045379(C;T)

Make rs797045379(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78033812

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045379
dbSNP (classic)	rs797045379
ClinGen	rs797045379
ebi	rs797045379
HLI	rs797045379
Exac	rs797045379
Gnomad	rs797045379
Varsome	rs797045379
LitVar	rs797045379
Map	rs797045379
PheGenI	rs797045379
Biobank	rs797045379
1000 genomes	rs797045379
hgdp	rs797045379
ensembl	rs797045379
geneview	rs797045379
scholar	rs797045379
google	rs797045379
pharmgkb	rs797045379
gwascentral	rs797045379
openSNP	rs797045379
23andMe	rs797045379
SNPshot	rs797045379
SNPdbe	rs797045379
MSV3d	rs797045379
GWAS Ctlg	rs797045379

Max Magnitude

0

ClinVar
Risk	rs797045379(T;T)
Alt	rs797045379(T;T)
Reference	Rs797045379(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.77289310C>T
CLNSRC
CLNACC	RCV000192813.1,