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rs386134130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134130(A;A)
Make rs386134130(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position149185393
GeneCP
is asnp
is mentioned by
dbSNPrs386134130
ebirs386134130
HLIrs386134130
Exacrs386134130
Varsomers386134130
Maprs386134130
PheGenIrs386134130
hapmaprs386134130
1000 genomesrs386134130
hgdprs386134130
ensemblrs386134130
gopubmedrs386134130
geneviewrs386134130
scholarrs386134130
googlers386134130
pharmgkbrs386134130
gwascentralrs386134130
openSNPrs386134130
23andMers386134130
23andMe allrs386134130
SNP Nexus

SNPshotrs386134130
SNPdbers386134130
MSV3drs386134130
GWAS Ctlgrs386134130
Max Magnitude0
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,