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rs774277300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Hereditary cancer predisposition (reported)
(C;T) 5 Colorectal cancer risk increase
(G;G) 0 common in clinvar
Make rs774277300(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position94447276
GeneMRE11A
is asnp
is mentioned by
dbSNPrs774277300
ebirs774277300
HLIrs774277300
Exacrs774277300
Varsomers774277300
Maprs774277300
PheGenIrs774277300
hapmaprs774277300
1000 genomesrs774277300
hgdprs774277300
ensemblrs774277300
gopubmedrs774277300
geneviewrs774277300
scholarrs774277300
googlers774277300
pharmgkbrs774277300
gwascentralrs774277300
openSNPrs774277300
23andMers774277300
23andMe allrs774277300
SNP Nexus

SNPshotrs774277300
SNPdbers774277300
MSV3drs774277300
GWAS Ctlgrs774277300
Max Magnitude5

rs774277300, also known as c.1726C>T and p.Arg576Ter, represents a rare mutation in the MRE11A gene on chromosome 11.

Inherited dominantly, the minor allele is reported to increase risk for colorectal cancer. 10.1038/ncomms11883

Separately, a different allele for this SNP, c.1726C>G (p.Arg576Gly), is reported in ClinVar as pathogenic for a hereditary cancer-predisposing syndrome.


ClinVar
Risk rs774277300(A,C,T;A,C,T)
Alt rs774277300(A,C,T;A,C,T)
Reference rs774277300(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene MRE11A
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.94180442G>A; NC_000011.9:g.94180442G>C
CLNSRC
CLNACC RCV000163701.2, RCV000166359.1,