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rs386134134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134134(G;T)
Make rs386134134(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position149221646
GeneCP
is asnp
is mentioned by
dbSNPrs386134134
ebirs386134134
HLIrs386134134
Exacrs386134134
Varsomers386134134
Maprs386134134
PheGenIrs386134134
hapmaprs386134134
1000 genomesrs386134134
hgdprs386134134
ensemblrs386134134
gopubmedrs386134134
geneviewrs386134134
scholarrs386134134
googlers386134134
pharmgkbrs386134134
gwascentralrs386134134
openSNPrs386134134
23andMers386134134
23andMe allrs386134134
SNP Nexus

SNPshotrs386134134
SNPdbers386134134
MSV3drs386134134
GWAS Ctlgrs386134134
Max Magnitude0
ClinVar
Risk rs386134134(A,T;A,T)
Alt rs386134134(A,T;A,T)
Reference rs386134134(G;G)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148939433C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034962.1,