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rs386134124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134124(C;G)
Make rs386134124(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149210187
GeneCP
is asnp
is mentioned by
dbSNPrs386134124
ebirs386134124
HLIrs386134124
Exacrs386134124
Varsomers386134124
Maprs386134124
PheGenIrs386134124
hapmaprs386134124
1000 genomesrs386134124
hgdprs386134124
ensemblrs386134124
gopubmedrs386134124
geneviewrs386134124
scholarrs386134124
googlers386134124
pharmgkbrs386134124
gwascentralrs386134124
openSNPrs386134124
23andMers386134124
23andMe allrs386134124
SNP Nexus

SNPshotrs386134124
SNPdbers386134124
MSV3drs386134124
GWAS Ctlgrs386134124
Max Magnitude0
ClinVar
Risk rs386134124(G,T;G,T)
Alt rs386134124(G,T;G,T)
Reference rs386134124(C;C)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148927974G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034946.1,