rs797045392

Orientation

plus

Stabilized

plus

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

Make rs797045392(-;-)

Make rs797045392(-;TCT)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78043325

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045392
dbSNP (classic)	rs797045392
ClinGen	rs797045392
ebi	rs797045392
HLI	rs797045392
Exac	rs797045392
Gnomad	rs797045392
Varsome	rs797045392
LitVar	rs797045392
Map	rs797045392
PheGenI	rs797045392
Biobank	rs797045392
1000 genomes	rs797045392
hgdp	rs797045392
ensembl	rs797045392
geneview	rs797045392
scholar	rs797045392
google	rs797045392
pharmgkb	rs797045392
gwascentral	rs797045392
openSNP	rs797045392
23andMe	rs797045392
SNPshot	rs797045392
SNPdbe	rs797045392
MSV3d	rs797045392
GWAS Ctlg	rs797045392

Max Magnitude

0

ClinVar
Risk	rs797045392(-;-)
Alt	rs797045392(-;-)
Reference	Rs797045392(TCT;TCT)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77298823_77298825delTCT
CLNSRC
CLNACC	RCV000194645.1,