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rs386134140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134140(G;T)
Make rs386134140(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position149182004
GeneCP
is asnp
is mentioned by
dbSNPrs386134140
dbSNP (classic)rs386134140
ClinGenrs386134140
ebirs386134140
HLIrs386134140
Exacrs386134140
Gnomadrs386134140
Varsomers386134140
LitVarrs386134140
Maprs386134140
PheGenIrs386134140
Biobankrs386134140
1000 genomesrs386134140
hgdprs386134140
ensemblrs386134140
geneviewrs386134140
scholarrs386134140
googlers386134140
pharmgkbrs386134140
gwascentralrs386134140
openSNPrs386134140
23andMers386134140
SNPshotrs386134140
SNPdbers386134140
MSV3drs386134140
GWAS Ctlgrs386134140
Max Magnitude0
ClinVar
Risk rs386134140(T;T)
Alt rs386134140(T;T)
Reference Rs386134140(G;G)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148899791C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034979.1,