rs797045346

Orientation

plus

Stabilized

plus

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

Make rs797045346(A;A)

Make rs797045346(A;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011662

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045346
dbSNP (classic)	rs797045346
ClinGen	rs797045346
ebi	rs797045346
HLI	rs797045346
Exac	rs797045346
Gnomad	rs797045346
Varsome	rs797045346
LitVar	rs797045346
Map	rs797045346
PheGenI	rs797045346
Biobank	rs797045346
1000 genomes	rs797045346
hgdp	rs797045346
ensembl	rs797045346
geneview	rs797045346
scholar	rs797045346
google	rs797045346
pharmgkb	rs797045346
gwascentral	rs797045346
openSNP	rs797045346
23andMe	rs797045346
SNPshot	rs797045346
SNPdbe	rs797045346
MSV3d	rs797045346
GWAS Ctlg	rs797045346

Max Magnitude

0

ClinVar
Risk	rs797045346(A;A)
Alt	rs797045346(A;A)
Reference	Rs797045346(T;T)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77267159T>A
CLNSRC
CLNACC	RCV000193010.1,