rs72554636

Orientation

plus

Stabilized

plus

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

Make rs72554636(C;T)

Make rs72554636(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

77989847

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs72554636
dbSNP (classic)	rs72554636
ClinGen	rs72554636
ebi	rs72554636
HLI	rs72554636
Exac	rs72554636
Gnomad	rs72554636
Varsome	rs72554636
LitVar	rs72554636
Map	rs72554636
PheGenI	rs72554636
Biobank	rs72554636
1000 genomes	rs72554636
hgdp	rs72554636
ensembl	rs72554636
geneview	rs72554636
scholar	rs72554636
google	rs72554636
pharmgkb	rs72554636
gwascentral	rs72554636
openSNP	rs72554636
23andMe	rs72554636
SNPshot	rs72554636
SNPdbe	rs72554636
MSV3d	rs72554636
GWAS Ctlg	rs72554636

Max Magnitude

0

ClinVar
Risk	rs72554636(T;T)
Alt	rs72554636(T;T)
Reference	Rs72554636(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.77245343C>T
CLNSRC
CLNACC	RCV000194461.1,