rs386134143

Orientation

minus

Stabilized

minus

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

Make rs386134143(-;A)

Make rs386134143(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

149210167

Gene

CP

is a	snp
is	mentioned by
dbSNP	rs386134143
dbSNP (classic)	rs386134143
ClinGen	rs386134143
ebi	rs386134143
HLI	rs386134143
Exac	rs386134143
Gnomad	rs386134143
Varsome	rs386134143
LitVar	rs386134143
Map	rs386134143
PheGenI	rs386134143
Biobank	rs386134143
1000 genomes	rs386134143
hgdp	rs386134143
ensembl	rs386134143
geneview	rs386134143
scholar	rs386134143
google	rs386134143
pharmgkb	rs386134143
gwascentral	rs386134143
openSNP	rs386134143
23andMe	rs386134143
SNPshot	rs386134143
SNPdbe	rs386134143
MSV3d	rs386134143
GWAS Ctlg	rs386134143

Max Magnitude

0

ClinVar
Risk	rs386134143(A;A)
Alt	rs386134143(A;A)
Reference	Rs386134143(-;-)
Significance	Pathogenic
Disease	Deficiency of ferroxidase Hemosiderosis
Variation	info
Gene	CP
CLNDBN	Deficiency of ferroxidase Hemosiderosis, systemic, due to aceruloplasminemia
Reversed	1
HGVS	NC_000003.11:g.148927955dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019122.33, RCV000019123.27,