rs794729231

Orientation

plus

Stabilized

plus

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

Make rs794729231(A;A)

Make rs794729231(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011448

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs794729231
dbSNP (classic)	rs794729231
ClinGen	rs794729231
ebi	rs794729231
HLI	rs794729231
Exac	rs794729231
Gnomad	rs794729231
Varsome	rs794729231
LitVar	rs794729231
Map	rs794729231
PheGenI	rs794729231
Biobank	rs794729231
1000 genomes	rs794729231
hgdp	rs794729231
ensembl	rs794729231
geneview	rs794729231
scholar	rs794729231
google	rs794729231
pharmgkb	rs794729231
gwascentral	rs794729231
openSNP	rs794729231
23andMe	rs794729231
SNPshot	rs794729231
SNPdbe	rs794729231
MSV3d	rs794729231
GWAS Ctlg	rs794729231

Max Magnitude

0

ClinVar
Risk	rs794729231(A;A) rs794729231(C;C)
Alt	rs794729231(A;A) rs794729231(C;C)
Reference	Rs794729231(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.77266945G>A; NC_000023.10:g.77266945G>C
CLNSRC
CLNACC	RCV000184052.1, RCV000193718.1,