rs138958687

Orientation

plus

Stabilized

plus

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

Make rs138958687(A;G)

Make rs138958687(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78021066

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs138958687
dbSNP (classic)	rs138958687
ClinGen	rs138958687
ebi	rs138958687
HLI	rs138958687
Exac	rs138958687
Gnomad	rs138958687
Varsome	rs138958687
LitVar	rs138958687
Map	rs138958687
PheGenI	rs138958687
Biobank	rs138958687
1000 genomes	rs138958687
hgdp	rs138958687
ensembl	rs138958687
geneview	rs138958687
scholar	rs138958687
google	rs138958687
pharmgkb	rs138958687
gwascentral	rs138958687
openSNP	rs138958687
23andMe	rs138958687
SNPshot	rs138958687
SNPdbe	rs138958687
MSV3d	rs138958687
GWAS Ctlg	rs138958687

Max Magnitude

0

ClinVar
Risk	rs138958687(G;G)
Alt	rs138958687(G;G)
Reference	Rs138958687(A;A)
Significance	Probable-Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77276563A>G
CLNSRC
CLNACC	RCV000192884.1,