rs77542170

plus

Geno	Mag	Summary
(C;C)	5	autosomal recessive familial adenomatous polyposis-2 (FAP2)
(C;T)	3	Carrier of a colorectal polyposis mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

45332088

Gene

MUTYH

is a	snp
is	mentioned by
dbSNP	rs77542170
dbSNP (classic)	rs77542170
ClinGen	rs77542170
ebi	rs77542170
HLI	rs77542170
Exac	rs77542170
Gnomad	rs77542170
Varsome	rs77542170
LitVar	rs77542170
Map	rs77542170
PheGenI	rs77542170
Biobank	rs77542170
1000 genomes	rs77542170
hgdp	rs77542170
ensembl	rs77542170
geneview	rs77542170
scholar	rs77542170
google	rs77542170
pharmgkb	rs77542170
gwascentral	rs77542170
openSNP	rs77542170
23andMe	rs77542170
SNPshot	rs77542170
SNPdbe	rs77542170
MSV3d	rs77542170
GWAS Ctlg	rs77542170

GMAF

0.002296

Max Magnitude

5

rs77542170, also known as both c.925-2A>G and c.934-2A>G, represents a rare variant in the MUTYH gene on chromosome 1.

Inherited recessively, the minor allele is considered in ClinVar (and BabySeq) as a pathogenic mutation for a cancer-predisposing syndrome, autosomal recessive familial adenomatous polyposis-2 (FAP2). Affected individuals have a significantly higher risk of developing colorectal cancer.

ClinVar
Risk	Rs77542170(C;C)
Alt	Rs77542170(C;C)
Reference	Rs77542170(T;T)
Significance	Other
Disease	MYH-associated polyposis not specified Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	MUTYH
CLNDBN	MYH-associated polyposis not specified Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000001.10:g.45797760T>C
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000034683.8, RCV000122431.1, RCV000129053.8, RCV000212712.3,