rs797045362

Orientation

plus

Stabilized

plus

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

Make rs797045362(A;A)

Make rs797045362(A;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78020367

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045362
dbSNP (classic)	rs797045362
ClinGen	rs797045362
ebi	rs797045362
HLI	rs797045362
Exac	rs797045362
Gnomad	rs797045362
Varsome	rs797045362
LitVar	rs797045362
Map	rs797045362
PheGenI	rs797045362
Biobank	rs797045362
1000 genomes	rs797045362
hgdp	rs797045362
ensembl	rs797045362
geneview	rs797045362
scholar	rs797045362
google	rs797045362
pharmgkb	rs797045362
gwascentral	rs797045362
openSNP	rs797045362
23andMe	rs797045362
SNPshot	rs797045362
SNPdbe	rs797045362
MSV3d	rs797045362
GWAS Ctlg	rs797045362

Max Magnitude

0

ClinVar
Risk	rs797045362(A;A)
Alt	rs797045362(A;A)
Reference	Rs797045362(T;T)
Significance	Probable-Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77275864T>A
CLNSRC
CLNACC	RCV000193806.1,