Have questions? Visit https://www.reddit.com/r/SNPedia

rs139633388

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139633388(C;G)
Make rs139633388(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149178609
GeneCP
is asnp
is mentioned by
dbSNPrs139633388
dbSNP (classic)rs139633388
ClinGenrs139633388
ebirs139633388
HLIrs139633388
Exacrs139633388
Gnomadrs139633388
Varsomers139633388
LitVarrs139633388
Maprs139633388
PheGenIrs139633388
Biobankrs139633388
1000 genomesrs139633388
hgdprs139633388
ensemblrs139633388
geneviewrs139633388
scholarrs139633388
googlers139633388
pharmgkbrs139633388
gwascentralrs139633388
openSNPrs139633388
23andMers139633388
SNPshotrs139633388
SNPdbers139633388
MSV3drs139633388
GWAS Ctlgrs139633388
GMAF0.002296
Max Magnitude0
ClinVar
Risk rs139633388(G;G)
Alt rs139633388(G;G)
Reference Rs139633388(C;C)
Significance Pathogenic
Disease Deficiency of ferroxidase Hemosiderosis not specified not provided
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase Hemosiderosis, systemic, due to aceruloplasminemia not specified not provided
Reversed 0
HGVS NC_000003.11:g.148896396C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034882.1, RCV000116819.1, RCV000334692.1, RCV000419016.1,