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rs386134154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs386134154(-;A)
Make rs386134154(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position149177940
GeneCP
is asnp
is mentioned by
dbSNPrs386134154
dbSNP (classic)rs386134154
ClinGenrs386134154
ebirs386134154
HLIrs386134154
Exacrs386134154
Gnomadrs386134154
Varsomers386134154
LitVarrs386134154
Maprs386134154
PheGenIrs386134154
Biobankrs386134154
1000 genomesrs386134154
hgdprs386134154
ensemblrs386134154
geneviewrs386134154
scholarrs386134154
googlers386134154
pharmgkbrs386134154
gwascentralrs386134154
openSNPrs386134154
23andMers386134154
SNPshotrs386134154
SNPdbers386134154
MSV3drs386134154
GWAS Ctlgrs386134154
Max Magnitude0
ClinVar
Risk rs386134154(A;A)
Alt rs386134154(A;A)
Reference Rs386134154(-;-)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148895728dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034983.1,