rs386134130

Orientation

minus

Stabilized

minus

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

Make rs386134130(A;A)

Make rs386134130(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

149185393

Gene

CP

is a	snp
is	mentioned by
dbSNP	rs386134130
dbSNP (classic)	rs386134130
ClinGen	rs386134130
ebi	rs386134130
HLI	rs386134130
Exac	rs386134130
Gnomad	rs386134130
Varsome	rs386134130
LitVar	rs386134130
Map	rs386134130
PheGenI	rs386134130
Biobank	rs386134130
1000 genomes	rs386134130
hgdp	rs386134130
ensembl	rs386134130
geneview	rs386134130
scholar	rs386134130
google	rs386134130
pharmgkb	rs386134130
gwascentral	rs386134130
openSNP	rs386134130
23andMe	rs386134130
SNPshot	rs386134130
SNPdbe	rs386134130
MSV3d	rs386134130
GWAS Ctlg	rs386134130

Max Magnitude

0

ClinVar
Risk	rs386134130(A;A)
Alt	rs386134130(A;A)
Reference	Rs386134130(C;C)
Significance	Pathogenic
Disease	Deficiency of ferroxidase
Variation	info
Gene	CP
CLNDBN	Deficiency of ferroxidase
Reversed	1
HGVS	NC_000003.11:g.148903180G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034948.1,