rs151340633

Orientation

plus

Stabilized

plus

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

Make rs151340633(C;T)

Make rs151340633(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

77988722

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs151340633
dbSNP (classic)	rs151340633
ClinGen	rs151340633
ebi	rs151340633
HLI	rs151340633
Exac	rs151340633
Gnomad	rs151340633
Varsome	rs151340633
LitVar	rs151340633
Map	rs151340633
PheGenI	rs151340633
Biobank	rs151340633
1000 genomes	rs151340633
hgdp	rs151340633
ensembl	rs151340633
geneview	rs151340633
scholar	rs151340633
google	rs151340633
pharmgkb	rs151340633
gwascentral	rs151340633
openSNP	rs151340633
23andMe	rs151340633
SNPshot	rs151340633
SNPdbe	rs151340633
MSV3d	rs151340633
GWAS Ctlg	rs151340633

Max Magnitude

0

ClinVar
Risk	rs151340633(T;T)
Alt	rs151340633(T;T)
Reference	Rs151340633(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.77244218C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012560.16,