Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606840
rs267606840
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.800 GeneticVariation UNIPROT GALNT12 is not a major contributor of familial colorectal cancer type X. 24115450 2014
dbSNP: rs267606840
rs267606840
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.800 GeneticVariation UNIPROT Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. 22461326 2012
dbSNP: rs267606840
rs267606840
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.800 GeneticVariation UNIPROT Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. 19617566 2009
dbSNP: rs267606840
rs267606840
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs145236923
rs145236923
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT GALNT12 is not a major contributor of familial colorectal cancer type X. 24115450 2014
dbSNP: rs149726976
rs149726976
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT GALNT12 is not a major contributor of familial colorectal cancer type X. 24115450 2014
dbSNP: rs868590153
rs868590153
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT GALNT12 is not a major contributor of familial colorectal cancer type X. 24115450 2014
dbSNP: rs145236923
rs145236923
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. 22461326 2012
dbSNP: rs149726976
rs149726976
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. 22461326 2012
dbSNP: rs868590153
rs868590153
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. 22461326 2012
dbSNP: rs2295924
rs2295924
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C4021107
Disease:
Non-obstructive azoospermia 		0.700 GeneticVariation GWASDB A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. 22197933 2011
dbSNP: rs145236923
rs145236923
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. 19617566 2009
dbSNP: rs149726976
rs149726976
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. 19617566 2009
dbSNP: rs868590153
rs868590153
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. 19617566 2009
dbSNP: rs1272530441
rs1272530441
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs920049418
rs920049418
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs145236923
rs145236923
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C0334108
Disease:
Multiple polyps 		0.010 GeneticVariation BEFREE After segregation studies, LOH analyses, glycosylation pattern tests and case-control studies, our results did not support the role of c.907G>A, p.(D303N) as a high-penetrance risk allele for polyposis CRC. 29095867 2017
dbSNP: rs149726976
rs149726976
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE In case of R297W-GALNT12, prediction of highly deleterious effect and disruption in ionic interactions were anticipated with reduction in enzymatic activity, associated with bilateral breast cancer and primary colorectal cancers. 24038392 2014
dbSNP: rs149726976
rs149726976
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C0281267
Disease:
bilateral breast cancer 		0.010 GeneticVariation BEFREE In case of R297W-GALNT12, prediction of highly deleterious effect and disruption in ionic interactions were anticipated with reduction in enzymatic activity, associated with bilateral breast cancer and primary colorectal cancers. 24038392 2014
dbSNP: rs145236923
rs145236923
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE The probability by chance that cosegregation of c.907G>A with CRC and/or adenomatous polyps occurred, in the two pedigrees combined, was 1.56%. 22461326 2012
dbSNP: rs145236923
rs145236923
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12
CUI: C0206677
Disease:
Adenomatous Polyps 		0.010 GeneticVariation BEFREE The probability by chance that cosegregation of c.907G>A with CRC and/or adenomatous polyps occurred, in the two pedigrees combined, was 1.56%. 22461326 2012