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rs386134153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs386134153(-;-)
Make rs386134153(-;CT)
ReferenceGRCh38 38.1/141
Chromosome3
Position149178603
GeneCP
is asnp
is mentioned by
dbSNPrs386134153
dbSNP (classic)rs386134153
ClinGenrs386134153
ebirs386134153
HLIrs386134153
Exacrs386134153
Gnomadrs386134153
Varsomers386134153
LitVarrs386134153
Maprs386134153
PheGenIrs386134153
Biobankrs386134153
1000 genomesrs386134153
hgdprs386134153
ensemblrs386134153
geneviewrs386134153
scholarrs386134153
googlers386134153
pharmgkbrs386134153
gwascentralrs386134153
openSNPrs386134153
23andMers386134153
SNPshotrs386134153
SNPdbers386134153
MSV3drs386134153
GWAS Ctlgrs386134153
Max Magnitude0
ClinVar
Risk rs386134153(-;-)
Alt rs386134153(-;-)
Reference Rs386134153(CT;CT)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148896390_148896391delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034981.1,