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rs386134139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134139(A;A)
Make rs386134139(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149186733
GeneCP
is asnp
is mentioned by
dbSNPrs386134139
dbSNP (classic)rs386134139
ClinGenrs386134139
ebirs386134139
HLIrs386134139
Exacrs386134139
Gnomadrs386134139
Varsomers386134139
LitVarrs386134139
Maprs386134139
PheGenIrs386134139
Biobankrs386134139
1000 genomesrs386134139
hgdprs386134139
ensemblrs386134139
geneviewrs386134139
scholarrs386134139
googlers386134139
pharmgkbrs386134139
gwascentralrs386134139
openSNPrs386134139
23andMers386134139
SNPshotrs386134139
SNPdbers386134139
MSV3drs386134139
GWAS Ctlgrs386134139
Max Magnitude0
ClinVar
Risk rs386134139(A;A)
Alt rs386134139(A;A)
Reference Rs386134139(G;G)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148904520C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034966.1,