rs797045341

Orientation

plus

Stabilized

plus

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

Make rs797045341(A;A)

Make rs797045341(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011257

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045341
dbSNP (classic)	rs797045341
ClinGen	rs797045341
ebi	rs797045341
HLI	rs797045341
Exac	rs797045341
Gnomad	rs797045341
Varsome	rs797045341
LitVar	rs797045341
Map	rs797045341
PheGenI	rs797045341
Biobank	rs797045341
1000 genomes	rs797045341
hgdp	rs797045341
ensembl	rs797045341
geneview	rs797045341
scholar	rs797045341
google	rs797045341
pharmgkb	rs797045341
gwascentral	rs797045341
openSNP	rs797045341
23andMe	rs797045341
SNPshot	rs797045341
SNPdbe	rs797045341
MSV3d	rs797045341
GWAS Ctlg	rs797045341

Max Magnitude

0

ClinVar
Risk	rs797045341(A;A)
Alt	rs797045341(A;A)
Reference	Rs797045341(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.77266754G>A
CLNSRC
CLNACC	RCV000192316.1,