Have questions? Visit https://www.reddit.com/r/SNPedia

rs386134128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134128(C;C)
Make rs386134128(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position149206253
GeneCP
is asnp
is mentioned by
dbSNPrs386134128
ebirs386134128
HLIrs386134128
Exacrs386134128
Varsomers386134128
Maprs386134128
PheGenIrs386134128
hapmaprs386134128
1000 genomesrs386134128
hgdprs386134128
ensemblrs386134128
gopubmedrs386134128
geneviewrs386134128
scholarrs386134128
googlers386134128
pharmgkbrs386134128
gwascentralrs386134128
openSNPrs386134128
23andMers386134128
23andMe allrs386134128
SNP Nexus

SNPshotrs386134128
SNPdbers386134128
MSV3drs386134128
GWAS Ctlgrs386134128
Max Magnitude0
ClinVar
Risk rs386134128(C;C)
Alt rs386134128(C;C)
Reference rs386134128(T;T)
Significance Pathogenic
Disease Deficiency of ferroxidase
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase
Reversed 1
HGVS NC_000003.11:g.148924040A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034955.1,