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rs386134148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134148(-;-)
Make rs386134148(-;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149186529
GeneCP
is asnp
is mentioned by
dbSNPrs386134148
dbSNP (classic)rs386134148
ClinGenrs386134148
ebirs386134148
HLIrs386134148
Exacrs386134148
Gnomadrs386134148
Varsomers386134148
LitVarrs386134148
Maprs386134148
PheGenIrs386134148
Biobankrs386134148
1000 genomesrs386134148
hgdprs386134148
ensemblrs386134148
geneviewrs386134148
scholarrs386134148
googlers386134148
pharmgkbrs386134148
gwascentralrs386134148
openSNPrs386134148
23andMers386134148
SNPshotrs386134148
SNPdbers386134148
MSV3drs386134148
GWAS Ctlgrs386134148
Max Magnitude0
ClinVar
Risk rs386134148(-;-)
Alt rs386134148(-;-)
Reference Rs386134148(G;G)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148904316delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034971.1,