rs797045344

Orientation

plus

Stabilized

plus

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

Make rs797045344(A;A)

Make rs797045344(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011498

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045344
dbSNP (classic)	rs797045344
ClinGen	rs797045344
ebi	rs797045344
HLI	rs797045344
Exac	rs797045344
Gnomad	rs797045344
Varsome	rs797045344
LitVar	rs797045344
Map	rs797045344
PheGenI	rs797045344
Biobank	rs797045344
1000 genomes	rs797045344
hgdp	rs797045344
ensembl	rs797045344
geneview	rs797045344
scholar	rs797045344
google	rs797045344
pharmgkb	rs797045344
gwascentral	rs797045344
openSNP	rs797045344
23andMe	rs797045344
SNPshot	rs797045344
SNPdbe	rs797045344
MSV3d	rs797045344
GWAS Ctlg	rs797045344

Max Magnitude

0

ClinVar
Risk	rs797045344(A;A) rs797045344(C;C)
Alt	rs797045344(A;A) rs797045344(C;C)
Reference	Rs797045344(G;G)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77266995G>A; NC_000023.10:g.77266995G>C
CLNSRC
CLNACC	RCV000193497.1, RCV000194915.1,