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rs386134125

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134125(C;C)
Make rs386134125(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position149209342
GeneCP
is asnp
is mentioned by
dbSNPrs386134125
dbSNP (classic)rs386134125
ClinGenrs386134125
ebirs386134125
HLIrs386134125
Exacrs386134125
Gnomadrs386134125
Varsomers386134125
LitVarrs386134125
Maprs386134125
PheGenIrs386134125
Biobankrs386134125
1000 genomesrs386134125
hgdprs386134125
ensemblrs386134125
geneviewrs386134125
scholarrs386134125
googlers386134125
pharmgkbrs386134125
gwascentralrs386134125
openSNPrs386134125
23andMers386134125
SNPshotrs386134125
SNPdbers386134125
MSV3drs386134125
GWAS Ctlgrs386134125
Max Magnitude0
ClinVar
Risk rs386134125(C;C)
Alt rs386134125(C;C)
Reference Rs386134125(T;T)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148927129A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034879.1,