rs774277300

plus

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)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

94447276

Gene

MRE11A

is a	snp
is	mentioned by
dbSNP	rs774277300
dbSNP (classic)	rs774277300
ClinGen	rs774277300
ebi	rs774277300
HLI	rs774277300
Exac	rs774277300
Gnomad	rs774277300
Varsome	rs774277300
LitVar	rs774277300
Map	rs774277300
PheGenI	rs774277300
Biobank	rs774277300
1000 genomes	rs774277300
hgdp	rs774277300
ensembl	rs774277300
geneview	rs774277300
scholar	rs774277300
google	rs774277300
pharmgkb	rs774277300
gwascentral	rs774277300
openSNP	rs774277300
23andMe	rs774277300
SNPshot	rs774277300
SNPdbe	rs774277300
MSV3d	rs774277300
GWAS Ctlg	rs774277300

Max Magnitude

5

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;A) Rs774277300(C;C) rs774277300(T;T)
Alt	rs774277300(A;A) Rs774277300(C;C) rs774277300(T;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	RCV000163701.4, RCV000166359.2,