rs151340631

Orientation

plus

Stabilized

plus

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

Make rs151340631(C;T)

Make rs151340631(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

78011216

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs151340631
dbSNP (classic)	rs151340631
ClinGen	rs151340631
ebi	rs151340631
HLI	rs151340631
Exac	rs151340631
Gnomad	rs151340631
Varsome	rs151340631
LitVar	rs151340631
Map	rs151340631
PheGenI	rs151340631
Biobank	rs151340631
1000 genomes	rs151340631
hgdp	rs151340631
ensembl	rs151340631
geneview	rs151340631
scholar	rs151340631
google	rs151340631
pharmgkb	rs151340631
gwascentral	rs151340631
openSNP	rs151340631
23andMe	rs151340631
SNPshot	rs151340631
SNPdbe	rs151340631
MSV3d	rs151340631
GWAS Ctlg	rs151340631

Merged from

Rs28936068

Max Magnitude

0

ClinVar
Risk	rs151340631(G;G) rs151340631(T;T)
Alt	rs151340631(G;G) rs151340631(T;T)
Reference	Rs151340631(C;C)
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.77266713C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012549.16, RCV000195239.1,