rs869312753

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;T)	6.5	Familial Adenomatous Polyposis
(T;T)	3	risk factor for colorectal cancer?

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

112780820

Gene

APC

is a	snp
is	mentioned by
dbSNP	rs869312753
dbSNP (classic)	rs869312753
ClinGen	rs869312753
ebi	rs869312753
HLI	rs869312753
Exac	rs869312753
Gnomad	rs869312753
Varsome	rs869312753
LitVar	rs869312753
Map	rs869312753
PheGenI	rs869312753
Biobank	rs869312753
1000 genomes	rs869312753
hgdp	rs869312753
ensembl	rs869312753
geneview	rs869312753
scholar	rs869312753
google	rs869312753
pharmgkb	rs869312753
gwascentral	rs869312753
openSNP	rs869312753
23andMe	rs869312753
SNPshot	rs869312753
SNPdbe	rs869312753
MSV3d	rs869312753
GWAS Ctlg	rs869312753

Max Magnitude

6.5

aka cc.562C>T, p.Gln188Ter or Q188X

reported in ClinVar as a susceptibility factor for colorectal cancer, presumably based on [PMID 26845104]

ClinVar
Risk	Rs869312753(T;T)
Alt	Rs869312753(T;T)
Reference	Rs869312753(C;C)
Significance	Pathogenic
Disease	Colorectal cancer
Variation	info
Gene	APC
CLNDBN	Colorectal cancer, susceptibility to
Reversed	0
HGVS	NC_000005.9:g.112116517C>T
CLNSRC
CLNACC	RCV000210089.1,