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rs386134138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs386134138(-;TG)
Make rs386134138(TG;TG)
ReferenceGRCh38 38.1/141
Chromosome3
Position149202239
GeneCP
is asnp
is mentioned by
dbSNPrs386134138
dbSNP (classic)rs386134138
ClinGenrs386134138
ebirs386134138
HLIrs386134138
Exacrs386134138
Gnomadrs386134138
Varsomers386134138
LitVarrs386134138
Maprs386134138
PheGenIrs386134138
Biobankrs386134138
1000 genomesrs386134138
hgdprs386134138
ensemblrs386134138
geneviewrs386134138
scholarrs386134138
googlers386134138
pharmgkbrs386134138
gwascentralrs386134138
openSNPrs386134138
23andMers386134138
SNPshotrs386134138
SNPdbers386134138
MSV3drs386134138
GWAS Ctlgrs386134138
Max Magnitude0
ClinVar
Risk rs386134138(TG;TG)
Alt rs386134138(TG;TG)
Reference Rs386134138(-;-)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148920027_148920028dupCA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034958.2,