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rs386134142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134142(A;A)
Make rs386134142(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149176413
GeneCP
is asnp
is mentioned by
dbSNPrs386134142
ebirs386134142
HLIrs386134142
Exacrs386134142
Varsomers386134142
Maprs386134142
PheGenIrs386134142
hapmaprs386134142
1000 genomesrs386134142
hgdprs386134142
ensemblrs386134142
gopubmedrs386134142
geneviewrs386134142
scholarrs386134142
googlers386134142
pharmgkbrs386134142
gwascentralrs386134142
openSNPrs386134142
23andMers386134142
23andMe allrs386134142
SNP Nexus

SNPshotrs386134142
SNPdbers386134142
MSV3drs386134142
GWAS Ctlgrs386134142
Max Magnitude0
ClinVar
Risk rs386134142(A;A)
Alt rs386134142(A;A)
Reference rs386134142(G;G)
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.148894200C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019114.37, RCV000019115.23,