rs797045339

Orientation

plus

Stabilized

plus

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

Make rs797045339(G;G)

Make rs797045339(G;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011180

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045339
dbSNP (classic)	rs797045339
ClinGen	rs797045339
ebi	rs797045339
HLI	rs797045339
Exac	rs797045339
Gnomad	rs797045339
Varsome	rs797045339
LitVar	rs797045339
Map	rs797045339
PheGenI	rs797045339
Biobank	rs797045339
1000 genomes	rs797045339
hgdp	rs797045339
ensembl	rs797045339
geneview	rs797045339
scholar	rs797045339
google	rs797045339
pharmgkb	rs797045339
gwascentral	rs797045339
openSNP	rs797045339
23andMe	rs797045339
SNPshot	rs797045339
SNPdbe	rs797045339
MSV3d	rs797045339
GWAS Ctlg	rs797045339

Max Magnitude

0

ClinVar
Risk	rs797045339(G;G)
Alt	rs797045339(G;G)
Reference	Rs797045339(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.77266677T>G
CLNSRC
CLNACC	RCV000193177.1,