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

rs77542170

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome1
Position45332088
GeneMUTYH
is asnp
is mentioned by
dbSNPrs77542170
dbSNP (old)rs77542170
ClinGenrs77542170
ebirs77542170
HLIrs77542170
Exacrs77542170
Varsomers77542170
Maprs77542170
PheGenIrs77542170
Biobankrs77542170
1000 genomesrs77542170
hgdprs77542170
ensemblrs77542170
gopubmedrs77542170
geneviewrs77542170
scholarrs77542170
googlers77542170
pharmgkbrs77542170
gwascentralrs77542170
openSNPrs77542170
23andMers77542170
23andMe allrs77542170
SNP Nexus

SNPshotrs77542170
SNPdbers77542170
MSV3drs77542170
GWAS Ctlgrs77542170
GMAF0.002296
Max Magnitude5

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,