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rs61733458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 probably a benign genotype
(A;G) 1 probably a benign allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position149198428
GeneCP
is asnp
is mentioned by
dbSNPrs61733458
ebirs61733458
HLIrs61733458
Exacrs61733458
Varsomers61733458
Maprs61733458
PheGenIrs61733458
hapmaprs61733458
1000 genomesrs61733458
hgdprs61733458
ensemblrs61733458
gopubmedrs61733458
geneviewrs61733458
scholarrs61733458
googlers61733458
pharmgkbrs61733458
gwascentralrs61733458
openSNPrs61733458
23andMers61733458
23andMe allrs61733458
SNP Nexus

SNPshotrs61733458
SNPdbers61733458
MSV3drs61733458
GWAS Ctlgrs61733458
GMAF0.01102
Max Magnitude1

aka c.1652C>T, p.Thr551Ile and T551I

Minor allele frequency of about 2-3% in most populations argues against this allele being pathogenic (when inherited recessively) for ferroxidase deficiency as indicated in ClinVar, given a stated incidence of less than 1 in 100,000.


ClinVar
Risk rs61733458(A;A)
Alt rs61733458(A;A)
Reference rs61733458(G;G)
Significance Pathogenic
Disease Deficiency of ferroxidase not specified
Variation info
Gene CP
CLNDBN Deficiency of ferroxidase not specified
Reversed 0
HGVS NC_000003.11:g.148916215G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034952.1, RCV000116816.1,