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rs386134133

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134133(A;A)
Make rs386134133(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149177896
GeneCP
is asnp
is mentioned by
dbSNPrs386134133
dbSNP (classic)rs386134133
ClinGenrs386134133
ebirs386134133
HLIrs386134133
Exacrs386134133
Gnomadrs386134133
Varsomers386134133
LitVarrs386134133
Maprs386134133
PheGenIrs386134133
Biobankrs386134133
1000 genomesrs386134133
hgdprs386134133
ensemblrs386134133
geneviewrs386134133
scholarrs386134133
googlers386134133
pharmgkbrs386134133
gwascentralrs386134133
openSNPrs386134133
23andMers386134133
SNPshotrs386134133
SNPdbers386134133
MSV3drs386134133
GWAS Ctlgrs386134133
Max Magnitude0
ClinVar
Risk rs386134133(A;A)
Alt rs386134133(A;A)
Reference Rs386134133(G;G)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148895683C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034883.2,