rs797045375

Orientation

plus

Stabilized

plus

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

Make rs797045375(-;-)

Make rs797045375(-;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78033650

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045375
dbSNP (classic)	rs797045375
ClinGen	rs797045375
ebi	rs797045375
HLI	rs797045375
Exac	rs797045375
Gnomad	rs797045375
Varsome	rs797045375
LitVar	rs797045375
Map	rs797045375
PheGenI	rs797045375
Biobank	rs797045375
1000 genomes	rs797045375
hgdp	rs797045375
ensembl	rs797045375
geneview	rs797045375
scholar	rs797045375
google	rs797045375
pharmgkb	rs797045375
gwascentral	rs797045375
openSNP	rs797045375
23andMe	rs797045375
SNPshot	rs797045375
SNPdbe	rs797045375
MSV3d	rs797045375
GWAS Ctlg	rs797045375

Max Magnitude

0

ClinVar
Risk	rs797045375(-;-)
Alt	rs797045375(-;-)
Reference	Rs797045375(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.77289148delG
CLNSRC
CLNACC	RCV000193615.1,