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rs386134127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134127(A;A)
Make rs386134127(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position149206327
GeneCP
is asnp
is mentioned by
dbSNPrs386134127
ebirs386134127
HLIrs386134127
Exacrs386134127
Varsomers386134127
Maprs386134127
PheGenIrs386134127
hapmaprs386134127
1000 genomesrs386134127
hgdprs386134127
ensemblrs386134127
gopubmedrs386134127
geneviewrs386134127
scholarrs386134127
googlers386134127
pharmgkbrs386134127
gwascentralrs386134127
openSNPrs386134127
23andMers386134127
23andMe allrs386134127
SNP Nexus

SNPshotrs386134127
SNPdbers386134127
MSV3drs386134127
GWAS Ctlgrs386134127
Max Magnitude0
ClinVar
Risk rs386134127(A;A)
Alt rs386134127(A;A)
Reference rs386134127(C;C)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148924114G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034876.1,