rs797045338

Orientation

plus

Stabilized

plus

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

Make rs797045338(C;C)

Make rs797045338(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011175

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045338
dbSNP (classic)	rs797045338
ClinGen	rs797045338
ebi	rs797045338
HLI	rs797045338
Exac	rs797045338
Gnomad	rs797045338
Varsome	rs797045338
LitVar	rs797045338
Map	rs797045338
PheGenI	rs797045338
Biobank	rs797045338
1000 genomes	rs797045338
hgdp	rs797045338
ensembl	rs797045338
geneview	rs797045338
scholar	rs797045338
google	rs797045338
pharmgkb	rs797045338
gwascentral	rs797045338
openSNP	rs797045338
23andMe	rs797045338
SNPshot	rs797045338
SNPdbe	rs797045338
MSV3d	rs797045338
GWAS Ctlg	rs797045338

Max Magnitude

0

ClinVar
Risk	rs797045338(C;C)
Alt	rs797045338(C;C)
Reference	Rs797045338(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.77266672G>C
CLNSRC
CLNACC	RCV000195126.1,