Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color 		A 0.800 GeneticVariation GWASDB Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color 		A 0.800 GeneticVariation GWASDB Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color 		A 0.800 GeneticVariation GWASCAT Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color 		A 0.800 GeneticVariation GWASCAT Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
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: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0027960
Disease:
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: 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: C0027962
Disease:
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: rs916977
rs916977
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color 		0.800 GeneticVariation GWASCAT Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008
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
dbSNP: rs8039195
rs8039195
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: rs8041209
rs8041209
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: rs1555444543
rs1555444543
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1458155
Disease:
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. 16397024 2006
dbSNP: rs916977
rs916977
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0553723
Disease:
Squamous cell carcinoma of skin 		0.010 GeneticVariation BEFREE OCA2 variants rs12913832 and rs916977 were significantly associated with time to first cSCC post-transplant. 28456133 2017