rs72554650

Orientation

plus

Stabilized

plus

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

Make rs72554650(C;T)

Make rs72554650(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78029289

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs72554650
dbSNP (classic)	rs72554650
ClinGen	rs72554650
ebi	rs72554650
HLI	rs72554650
Exac	rs72554650
Gnomad	rs72554650
Varsome	rs72554650
LitVar	rs72554650
Map	rs72554650
PheGenI	rs72554650
Biobank	rs72554650
1000 genomes	rs72554650
hgdp	rs72554650
ensembl	rs72554650
geneview	rs72554650
scholar	rs72554650
google	rs72554650
pharmgkb	rs72554650
gwascentral	rs72554650
openSNP	rs72554650
23andMe	rs72554650
SNPshot	rs72554650
SNPdbe	rs72554650
MSV3d	rs72554650
GWAS Ctlg	rs72554650

Max Magnitude

0

ClinVar
Risk	rs72554650(T;T)
Alt	rs72554650(T;T)
Reference	Rs72554650(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.77284786C>T
CLNSRC
CLNACC	RCV000193405.1,