rs72554639

Orientation

plus

Stabilized

plus

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

Make rs72554639(C;C)

Make rs72554639(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011191

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs72554639
dbSNP (classic)	rs72554639
ClinGen	rs72554639
ebi	rs72554639
HLI	rs72554639
Exac	rs72554639
Gnomad	rs72554639
Varsome	rs72554639
LitVar	rs72554639
Map	rs72554639
PheGenI	rs72554639
Biobank	rs72554639
1000 genomes	rs72554639
hgdp	rs72554639
ensembl	rs72554639
geneview	rs72554639
scholar	rs72554639
google	rs72554639
pharmgkb	rs72554639
gwascentral	rs72554639
openSNP	rs72554639
23andMe	rs72554639
SNPshot	rs72554639
SNPdbe	rs72554639
MSV3d	rs72554639
GWAS Ctlg	rs72554639

Max Magnitude

0

ClinVar
Risk	rs72554639(C;C)
Alt	rs72554639(C;C)
Reference	Rs72554639(G;G)
Significance	Probable-Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77266688G>C
CLNSRC
CLNACC	RCV000194213.1,