rs797045387

Orientation

plus

Stabilized

plus

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

Make rs797045387(A;G)

Make rs797045387(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78040737

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045387
dbSNP (classic)	rs797045387
ClinGen	rs797045387
ebi	rs797045387
HLI	rs797045387
Exac	rs797045387
Gnomad	rs797045387
Varsome	rs797045387
LitVar	rs797045387
Map	rs797045387
PheGenI	rs797045387
Biobank	rs797045387
1000 genomes	rs797045387
hgdp	rs797045387
ensembl	rs797045387
geneview	rs797045387
scholar	rs797045387
google	rs797045387
pharmgkb	rs797045387
gwascentral	rs797045387
openSNP	rs797045387
23andMe	rs797045387
SNPshot	rs797045387
SNPdbe	rs797045387
MSV3d	rs797045387
GWAS Ctlg	rs797045387

Max Magnitude

0

ClinVar
Risk	rs797045387(G;G)
Alt	rs797045387(G;G)
Reference	Rs797045387(A;A)
Significance	Probable-Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77296235A>G
CLNSRC
CLNACC	RCV000193334.1,