rs72554649

Orientation

plus

Stabilized

plus

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

Make rs72554649(C;T)

Make rs72554649(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

78029271

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs72554649
dbSNP (classic)	rs72554649
ClinGen	rs72554649
ebi	rs72554649
HLI	rs72554649
Exac	rs72554649
Gnomad	rs72554649
Varsome	rs72554649
LitVar	rs72554649
Map	rs72554649
PheGenI	rs72554649
Biobank	rs72554649
1000 genomes	rs72554649
hgdp	rs72554649
ensembl	rs72554649
geneview	rs72554649
scholar	rs72554649
google	rs72554649
pharmgkb	rs72554649
gwascentral	rs72554649
openSNP	rs72554649
23andMe	rs72554649
SNPshot	rs72554649
SNPdbe	rs72554649
MSV3d	rs72554649
GWAS Ctlg	rs72554649

Max Magnitude

0

OMIM	300011
Desc
Variant	0005
Related	also

ClinVar
Risk	rs72554649(T;T)
Alt	rs72554649(T;T)
Reference	Rs72554649(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.77284768C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012551.23,