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

rs386134145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386134145(-;-)
Make rs386134145(-;TACAC)
Make rs386134145(TACAC;TACAC)
ReferenceGRCh38 38.1/141
Chromosome3
Position149202163
GeneCP
is asnp
is mentioned by
dbSNPrs386134145
ebirs386134145
HLIrs386134145
Exacrs386134145
Varsomers386134145
Maprs386134145
PheGenIrs386134145
hapmaprs386134145
1000 genomesrs386134145
hgdprs386134145
ensemblrs386134145
gopubmedrs386134145
geneviewrs386134145
scholarrs386134145
googlers386134145
pharmgkbrs386134145
gwascentralrs386134145
openSNPrs386134145
23andMers386134145
23andMe allrs386134145
SNP Nexus

SNPshotrs386134145
SNPdbers386134145
MSV3drs386134145
GWAS Ctlgrs386134145
Max Magnitude0
ClinVar
Risk rs386134145(TACAC;TACAC)
Alt rs386134145(TACAC;TACAC)
Reference rs386134145(;)
Significance Pathogenic
Disease Deficiency of ferroxidase Hemosiderosis
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase Hemosiderosis, systemic, due to aceruloplasminemia
Reversed 1
HGVS NC_000003.11:g.148919950_148919951insGTGTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000019118.33, RCV000019119.27,