rs797045383

Orientation

plus

Stabilized

plus

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

Make rs797045383(ATGACTGG;ATGACTGG)

Make rs797045383(ATGACTGG;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78040706

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045383
dbSNP (classic)	rs797045383
ClinGen	rs797045383
ebi	rs797045383
HLI	rs797045383
Exac	rs797045383
Gnomad	rs797045383
Varsome	rs797045383
LitVar	rs797045383
Map	rs797045383
PheGenI	rs797045383
Biobank	rs797045383
1000 genomes	rs797045383
hgdp	rs797045383
ensembl	rs797045383
geneview	rs797045383
scholar	rs797045383
google	rs797045383
pharmgkb	rs797045383
gwascentral	rs797045383
openSNP	rs797045383
23andMe	rs797045383
SNPshot	rs797045383
SNPdbe	rs797045383
MSV3d	rs797045383
GWAS Ctlg	rs797045383

Max Magnitude

0

ClinVar
Risk	rs797045383(ATGACTGG;ATGACTGG)
Alt	rs797045383(ATGACTGG;ATGACTGG)
Reference	Rs797045383(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.77296204delTinsATGACTGG
CLNSRC
CLNACC	RCV000195218.1,