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rs386134131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Probably Aceruloplasminemia, aka Deficiency of Ferroxidase.
(G;G) 0 common in clinvar
Make rs386134131(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149178618
GeneCP
is asnp
is mentioned by
dbSNPrs386134131
ebirs386134131
HLIrs386134131
Exacrs386134131
Varsomers386134131
Maprs386134131
PheGenIrs386134131
hapmaprs386134131
1000 genomesrs386134131
hgdprs386134131
ensemblrs386134131
gopubmedrs386134131
geneviewrs386134131
scholarrs386134131
googlers386134131
pharmgkbrs386134131
gwascentralrs386134131
openSNPrs386134131
23andMers386134131
23andMe allrs386134131
SNP Nexus

SNPshotrs386134131
SNPdbers386134131
MSV3drs386134131
GWAS Ctlgrs386134131
Max Magnitude4
ClinVar
Risk rs386134131(A;A)
Alt rs386134131(A;A)
Reference rs386134131(G;G)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148896405C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034881.1,