rs797045349

Orientation

plus

Stabilized

plus

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

Make rs797045349(A;G)

Make rs797045349(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78012877

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045349
dbSNP (classic)	rs797045349
ClinGen	rs797045349
ebi	rs797045349
HLI	rs797045349
Exac	rs797045349
Gnomad	rs797045349
Varsome	rs797045349
LitVar	rs797045349
Map	rs797045349
PheGenI	rs797045349
Biobank	rs797045349
1000 genomes	rs797045349
hgdp	rs797045349
ensembl	rs797045349
geneview	rs797045349
scholar	rs797045349
google	rs797045349
pharmgkb	rs797045349
gwascentral	rs797045349
openSNP	rs797045349
23andMe	rs797045349
SNPshot	rs797045349
SNPdbe	rs797045349
MSV3d	rs797045349
GWAS Ctlg	rs797045349

Max Magnitude

0

ClinVar
Risk	rs797045349(G;G)
Alt	rs797045349(G;G)
Reference	Rs797045349(A;A)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77268374A>G
CLNSRC
CLNACC	RCV000192993.1,