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rs2229080

From SNPedia

Orientationplus
Stabilizedplus
Make rs2229080(C;C)
Make rs2229080(C;G)
Make rs2229080(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position52906232
GeneDCC
is asnp
is mentioned by
dbSNPrs2229080
ebirs2229080
HLIrs2229080
Exacrs2229080
Varsomers2229080
Maprs2229080
PheGenIrs2229080
hapmaprs2229080
1000 genomesrs2229080
hgdprs2229080
ensemblrs2229080
gopubmedrs2229080
geneviewrs2229080
scholarrs2229080
googlers2229080
pharmgkbrs2229080
gwascentralrs2229080
openSNPrs2229080
23andMers2229080
23andMe allrs2229080
SNP Nexus

SNPshotrs2229080
SNPdbers2229080
MSV3drs2229080
GWAS Ctlgrs2229080
GMAF0.4568
Max Magnitude
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene DCC
allele G
frequency 0.35
sift TOLERATED
HuRef 1103645201050
Disease Association Colorectal tumors that lost their capacity to differentiate into mucus producing cells uniformly lack DCC expression. Inactivation of DCC due to allelic deletion and/or point mutations may cause both lymphatic and hematogenous metastasis of esophageal squamous cell carcinomas.



GET Evidence
DCC-R201G
aa_change Arg201Gly
aa_change_short R201G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.357501
summary



[PMID 23353777] DCC (Deleted in Colorectal Carcinoma) Gene Variants Confer Increased Susceptibility to Gallbladder Cancer (Ref. No.: GENE-D-12-01446)


[PMID 23765761] Role of genetic variants of deleted in colorectal carcinoma (DCC) polymorphisms and esophageal and gastric cancers risk in Kashmir Valley and meta-analysis.