rs797045366

Orientation

plus

Stabilized

plus

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

Make rs797045366(-;-)

Make rs797045366(-;GCATACTAATAAAAG)

Make rs797045366(GCATACTAATAAAAG;GCATACTAATAAAAG)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78029401

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045366
dbSNP (classic)	rs797045366
ClinGen	rs797045366
ebi	rs797045366
HLI	rs797045366
Exac	rs797045366
Gnomad	rs797045366
Varsome	rs797045366
LitVar	rs797045366
Map	rs797045366
PheGenI	rs797045366
Biobank	rs797045366
1000 genomes	rs797045366
hgdp	rs797045366
ensembl	rs797045366
geneview	rs797045366
scholar	rs797045366
google	rs797045366
pharmgkb	rs797045366
gwascentral	rs797045366
openSNP	rs797045366
23andMe	rs797045366
SNPshot	rs797045366
SNPdbe	rs797045366
MSV3d	rs797045366
GWAS Ctlg	rs797045366

Max Magnitude

0

ClinVar
Risk	rs797045366(-;-)
Alt	rs797045366(-;-)
Reference	Rs797045366(GGCATACTAATAAAA;GGCATACTAATAAAA)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77284898_77284912delGCATACTAATAAAAG
CLNSRC
CLNACC	RCV000193101.1,