rs72554645

Orientation

plus

Stabilized

plus

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

Make rs72554645(C;T)

Make rs72554645(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78013089

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs72554645
dbSNP (classic)	rs72554645
ClinGen	rs72554645
ebi	rs72554645
HLI	rs72554645
Exac	rs72554645
Gnomad	rs72554645
Varsome	rs72554645
LitVar	rs72554645
Map	rs72554645
PheGenI	rs72554645
Biobank	rs72554645
1000 genomes	rs72554645
hgdp	rs72554645
ensembl	rs72554645
geneview	rs72554645
scholar	rs72554645
google	rs72554645
pharmgkb	rs72554645
gwascentral	rs72554645
openSNP	rs72554645
23andMe	rs72554645
SNPshot	rs72554645
SNPdbe	rs72554645
MSV3d	rs72554645
GWAS Ctlg	rs72554645

Max Magnitude

0

ClinVar
Risk	rs72554645(T;T)
Alt	rs72554645(T;T)
Reference	Rs72554645(C;C)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77268586C>T
CLNSRC
CLNACC	RCV000193280.1,