Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12916300
rs12916300
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		0.700 GeneticVariation GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
dbSNP: rs8033755
rs8033755
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0002395
Disease:
Alzheimer's Disease 		A 0.700 GeneticVariation GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
dbSNP: rs1057518934
rs1057518934
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C3279222
Disease:
Aplasia/Hypoplasia of the cerebellum 		A 0.700 CausalMutation CLINVAR
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0004096
Disease:
Asthma 		A 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. 25918132 2015
dbSNP: rs1129038
rs1129038
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0004106
Disease:
Astigmatism 		C 0.700 GeneticVariation GWASCAT Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci. 30306274 2018
dbSNP: rs12916300
rs12916300
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0751676
Disease:
Basal Cell Cancer 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. 27539887 2016
dbSNP: rs12916300
rs12916300
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0751676
Disease:
Basal Cell Cancer 		T 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs12916300
rs12916300
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0007117
Disease:
Basal cell carcinoma 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. 27539887 2016
dbSNP: rs12916300
rs12916300
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0007117
Disease:
Basal cell carcinoma 		T 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs12916300
rs12916300
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0206710
Disease:
Basal Cell Neoplasm 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. 27539887 2016
dbSNP: rs12916300
rs12916300
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0206710
Disease:
Basal Cell Neoplasm 		T 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1456781
Disease:
Benign melanocytic nevus 		0.010 GeneticVariation BEFREE Waterside vacations strongly increased total nevus counts in children with rs12913832 blue eye color alleles and facial freckling scores in those with MC1R red hair color variants. 25410285 2014
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C4021567
Disease:
Central heterochromia 		0.010 GeneticVariation BEFREE We also observed that the marker HERC2 rs12913832, which is the main determinant of 'blue' versus 'brown' iris colour in European populations, is also significantly associated with central heterochromia in the European sample. 26547379 2016
dbSNP: rs12592730
rs12592730
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs1635168
rs1635168
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs1667394
rs1667394
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs16950979
rs16950979
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs16950987
rs16950987
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs2240202
rs2240202
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs2240204
rs2240204
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs2346050
rs2346050
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs6497287
rs6497287
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs6497292
rs6497292
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs7183877
rs7183877
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
dbSNP: rs8028689
rs8028689
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0474350
Disease:
Color of iris 		0.700 GeneticVariation GWASDB Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008