rs797045364

Orientation

plus

Stabilized

plus

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

Make rs797045364(-;-)

Make rs797045364(-;AAGT)

Make rs797045364(AAGT;AAGT)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78021082

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045364
dbSNP (classic)	rs797045364
ClinGen	rs797045364
ebi	rs797045364
HLI	rs797045364
Exac	rs797045364
Gnomad	rs797045364
Varsome	rs797045364
LitVar	rs797045364
Map	rs797045364
PheGenI	rs797045364
Biobank	rs797045364
1000 genomes	rs797045364
hgdp	rs797045364
ensembl	rs797045364
geneview	rs797045364
scholar	rs797045364
google	rs797045364
pharmgkb	rs797045364
gwascentral	rs797045364
openSNP	rs797045364
23andMe	rs797045364
SNPshot	rs797045364
SNPdbe	rs797045364
MSV3d	rs797045364
GWAS Ctlg	rs797045364

Max Magnitude

0

ClinVar
Risk	rs797045364(-;-)
Alt	rs797045364(-;-)
Reference	Rs797045364(GTAA;GTAA)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77276579_77276582delAAGT
CLNSRC
CLNACC	RCV000193969.1,