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rs9951523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs9951523(C;T)
Make rs9951523(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position52340854
GeneDCC
is asnp
is mentioned by
dbSNPrs9951523
ebirs9951523
HLIrs9951523
Exacrs9951523
Varsomers9951523
Maprs9951523
PheGenIrs9951523
hapmaprs9951523
1000 genomesrs9951523
hgdprs9951523
ensemblrs9951523
gopubmedrs9951523
geneviewrs9951523
scholarrs9951523
googlers9951523
pharmgkbrs9951523
gwascentralrs9951523
openSNPrs9951523
23andMers9951523
23andMe allrs9951523
SNP Nexus

SNPshotrs9951523
SNPdbers9951523
MSV3drs9951523
GWAS Ctlgrs9951523
GMAF0.009183
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene DCC
allele C
frequency 0.967
sift TOLERATED
HuRef 1103645199790
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-F23L
aa_change Phe23Leu
aa_change_short F23L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.98931
summary