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rs386134121

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386134121(A;T)
Make rs386134121(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position149221711
GeneCP
is asnp
is mentioned by
dbSNPrs386134121
dbSNP (classic)rs386134121
ClinGenrs386134121
ebirs386134121
HLIrs386134121
Exacrs386134121
Gnomadrs386134121
Varsomers386134121
LitVarrs386134121
Maprs386134121
PheGenIrs386134121
Biobankrs386134121
1000 genomesrs386134121
hgdprs386134121
ensemblrs386134121
geneviewrs386134121
scholarrs386134121
googlers386134121
pharmgkbrs386134121
gwascentralrs386134121
openSNPrs386134121
23andMers386134121
SNPshotrs386134121
SNPdbers386134121
MSV3drs386134121
GWAS Ctlgrs386134121
Max Magnitude0
ClinVar
Risk rs386134121(T;T)
Alt rs386134121(T;T)
Reference Rs386134121(A;A)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148939498T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034885.1,