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rs386134150

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134150(-;-)
Make rs386134150(-;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149182077
GeneCP
is asnp
is mentioned by
dbSNPrs386134150
dbSNP (classic)rs386134150
ClinGenrs386134150
ebirs386134150
HLIrs386134150
Exacrs386134150
Gnomadrs386134150
Varsomers386134150
LitVarrs386134150
Maprs386134150
PheGenIrs386134150
Biobankrs386134150
1000 genomesrs386134150
hgdprs386134150
ensemblrs386134150
geneviewrs386134150
scholarrs386134150
googlers386134150
pharmgkbrs386134150
gwascentralrs386134150
openSNPrs386134150
23andMers386134150
SNPshotrs386134150
SNPdbers386134150
MSV3drs386134150
GWAS Ctlgrs386134150
Max Magnitude0
ClinVar
Risk rs386134150(-;-)
Alt rs386134150(-;-)
Reference Rs386134150(G;G)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148899864delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034977.2,