rs143353451

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a MUTYH-related familial adenomatous polyposis mutation

Make rs143353451(A;A)

Make rs143353451(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

45332794

Gene

MUTYH

is a	snp
is	mentioned by
dbSNP	rs143353451
dbSNP (classic)	rs143353451
ClinGen	rs143353451
ebi	rs143353451
HLI	rs143353451
Exac	rs143353451
Gnomad	rs143353451
Varsome	rs143353451
LitVar	rs143353451
Map	rs143353451
PheGenI	rs143353451
Biobank	rs143353451
1000 genomes	rs143353451
hgdp	rs143353451
ensembl	rs143353451
geneview	rs143353451
scholar	rs143353451
google	rs143353451
pharmgkb	rs143353451
gwascentral	rs143353451
openSNP	rs143353451
23andMe	rs143353451
SNPshot	rs143353451
SNPdbe	rs143353451
MSV3d	rs143353451
GWAS Ctlg	rs143353451

Max Magnitude

3

aka c.545G>A (p.Arg182His or R182H), and also c.545G>T (p.Arg182Leu or R182L); the former is considered pathogenic in ClinVar for a hereditary cancer-predisposing syndrome (polyposis), while the latter is a variant of uncertain significance.

ClinVar
Risk	rs143353451(A;A) rs143353451(T;T)
Alt	rs143353451(A;A) rs143353451(T;T)
Reference	Rs143353451(C;C)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome not provided MYH-associated polyposis
Variation	info
Gene	MUTYH
CLNDBN	Hereditary cancer-predisposing syndrome not provided MYH-associated polyposis
Reversed	0
HGVS	NC_000001.10:g.45798466C>A; NC_000001.10:g.45798466C>T
CLNSRC
CLNACC	RCV000164867.2, RCV000160752.2, RCV000200700.2, RCV000214896.1,