rs151340632

Orientation

plus

Stabilized

plus

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

Make rs151340632(A;G)

Make rs151340632(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

78042694

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs151340632
dbSNP (classic)	rs151340632
ClinGen	rs151340632
ebi	rs151340632
HLI	rs151340632
Exac	rs151340632
Gnomad	rs151340632
Varsome	rs151340632
LitVar	rs151340632
Map	rs151340632
PheGenI	rs151340632
Biobank	rs151340632
1000 genomes	rs151340632
hgdp	rs151340632
ensembl	rs151340632
geneview	rs151340632
scholar	rs151340632
google	rs151340632
pharmgkb	rs151340632
gwascentral	rs151340632
openSNP	rs151340632
23andMe	rs151340632
SNPshot	rs151340632
SNPdbe	rs151340632
MSV3d	rs151340632
GWAS Ctlg	rs151340632

Max Magnitude

0

ClinVar
Risk	rs151340632(G;G)
Alt	rs151340632(G;G)
Reference	Rs151340632(A;A)
Significance	Pathogenic
Disease	Cutis laxa Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Cutis laxa, X-linked Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77298192A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012559.22, RCV000194377.1,