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rs386134143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386134143(-;-)
Make rs386134143(-;A)
Make rs386134143(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position149210167
GeneCP
is asnp
is mentioned by
dbSNPrs386134143
ebirs386134143
HLIrs386134143
Exacrs386134143
Varsomers386134143
Maprs386134143
PheGenIrs386134143
hapmaprs386134143
1000 genomesrs386134143
hgdprs386134143
ensemblrs386134143
gopubmedrs386134143
geneviewrs386134143
scholarrs386134143
googlers386134143
pharmgkbrs386134143
gwascentralrs386134143
openSNPrs386134143
23andMers386134143
23andMe allrs386134143
SNP Nexus

SNPshotrs386134143
SNPdbers386134143
MSV3drs386134143
GWAS Ctlgrs386134143
Max Magnitude0
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,