rs72554652

Orientation

plus

Stabilized

plus

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

Make rs72554652(A;A)

Make rs72554652(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

78029389

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs72554652
dbSNP (classic)	rs72554652
ClinGen	rs72554652
ebi	rs72554652
HLI	rs72554652
Exac	rs72554652
Gnomad	rs72554652
Varsome	rs72554652
LitVar	rs72554652
Map	rs72554652
PheGenI	rs72554652
Biobank	rs72554652
1000 genomes	rs72554652
hgdp	rs72554652
ensembl	rs72554652
geneview	rs72554652
scholar	rs72554652
google	rs72554652
pharmgkb	rs72554652
gwascentral	rs72554652
openSNP	rs72554652
23andMe	rs72554652
SNPshot	rs72554652
SNPdbe	rs72554652
MSV3d	rs72554652
GWAS Ctlg	rs72554652

Max Magnitude

0

OMIM	300011
Desc
Variant	0009
Related	also

ClinVar
Risk	rs72554652(A;A)
Alt	rs72554652(A;A)
Reference	Rs72554652(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.77284886G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012555.17,