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rs386134149

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134149(-;-)
Make rs386134149(-;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149183502
GeneCP
is asnp
is mentioned by
dbSNPrs386134149
dbSNP (classic)rs386134149
ClinGenrs386134149
ebirs386134149
HLIrs386134149
Exacrs386134149
Gnomadrs386134149
Varsomers386134149
LitVarrs386134149
Maprs386134149
PheGenIrs386134149
Biobankrs386134149
1000 genomesrs386134149
hgdprs386134149
ensemblrs386134149
geneviewrs386134149
scholarrs386134149
googlers386134149
pharmgkbrs386134149
gwascentralrs386134149
openSNPrs386134149
23andMers386134149
SNPshotrs386134149
SNPdbers386134149
MSV3drs386134149
GWAS Ctlgrs386134149
Max Magnitude0
ClinVar
Risk rs386134149(-;-)
Alt rs386134149(-;-)
Reference Rs386134149(G;G)
Significance Pathogenic
Disease Deficiency of ferroxidase Ceruloplasmin belfast
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase Ceruloplasmin belfast
Reversed 1
HGVS NC_000003.11:g.148901289delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019116.37, RCV000019117.23,