rs61733458

plus

Geno	Mag	Summary
(A;A)	1	probably a benign genotype
(A;G)	1	probably a benign allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

3

Position

149198428

Gene

CP

is a	snp
is	mentioned by
dbSNP	rs61733458
dbSNP (classic)	rs61733458
ClinGen	rs61733458
ebi	rs61733458
HLI	rs61733458
Exac	rs61733458
Gnomad	rs61733458
Varsome	rs61733458
LitVar	rs61733458
Map	rs61733458
PheGenI	rs61733458
Biobank	rs61733458
1000 genomes	rs61733458
hgdp	rs61733458
ensembl	rs61733458
geneview	rs61733458
scholar	rs61733458
google	rs61733458
pharmgkb	rs61733458
gwascentral	rs61733458
openSNP	rs61733458
23andMe	rs61733458
SNPshot	rs61733458
SNPdbe	rs61733458
MSV3d	rs61733458
GWAS Ctlg	rs61733458

GMAF

0.01102

Max Magnitude

1

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	Other
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	RCV000034952.2, RCV000116816.2,