rs797045355

Orientation

plus

Stabilized

plus

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

Make rs797045355(AGCATC;AGCATC)

Make rs797045355(AGCATC;CATATAGCAAA)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78013101

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045355
dbSNP (classic)	rs797045355
ClinGen	rs797045355
ebi	rs797045355
HLI	rs797045355
Exac	rs797045355
Gnomad	rs797045355
Varsome	rs797045355
LitVar	rs797045355
Map	rs797045355
PheGenI	rs797045355
Biobank	rs797045355
1000 genomes	rs797045355
hgdp	rs797045355
ensembl	rs797045355
geneview	rs797045355
scholar	rs797045355
google	rs797045355
pharmgkb	rs797045355
gwascentral	rs797045355
openSNP	rs797045355
23andMe	rs797045355
SNPshot	rs797045355
SNPdbe	rs797045355
MSV3d	rs797045355
GWAS Ctlg	rs797045355

Max Magnitude

0

ClinVar
Risk	rs797045355(AGCATC;AGCATC)
Alt	rs797045355(AGCATC;AGCATC)
Reference	Rs797045355(CATATAGCAAA;CATATAGCAAA)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77268598_77268608delCATATAGCAAAinsAGCATC
CLNSRC
CLNACC	RCV000194331.1,