Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 19782 single nucleotide variant NM_004667.5(HERC2):c.323-4749G>A 1667394 MedGen:C1856895,OMIM:227220 15 28530182 28530182 C T 19782 single nucleotide variant NM_004667.5(HERC2):c.323-4749G>A 1667394 MedGen:C1856895,OMIM:227220 15 28285036 28285036 C T 19783 single nucleotide variant HERC2, IVS12, C/T -1 MedGen:C1856895,OMIM:227220 na -1 -1 na na 19784 single nucleotide variant NM_004667.5(HERC2):c.13272+874T>C 12913832 MedGen:C1856895,OMIM:227220 15 28365618 28365618 A G 19784 single nucleotide variant NM_004667.5(HERC2):c.13272+874T>C 12913832 MedGen:C1856895,OMIM:227220 15 28120472 28120472 A G 94315 single nucleotide variant NM_004667.5(HERC2):c.1781C>T (p.Pro594Leu) 397518474 MedGen:C3809753,OMIM:615516,Orphanet:ORPHA329195 15 28510853 28510853 G A 94315 single nucleotide variant NM_004667.5(HERC2):c.1781C>T (p.Pro594Leu) 397518474 MedGen:C3809753,OMIM:615516,Orphanet:ORPHA329195 15 28265707 28265707 G A 154983 copy number gain GRCh38/hg38 15q13.1(chr15:28111211-28154050)x3 -1 - 15 28356357 28399196 na na 154983 copy number gain GRCh38/hg38 15q13.1(chr15:28111211-28154050)x3 -1 - 15 28111211 28154050 na na 154983 copy number gain GRCh38/hg38 15q13.1(chr15:28111211-28154050)x3 -1 - 15 26029952 26072791 na na 215491 single nucleotide variant NM_004667.5(HERC2):c.7411T>C (p.Ser2471Pro) 146883683 MedGen:CN169374 15 28202416 28202416 A G 215491 single nucleotide variant NM_004667.5(HERC2):c.7411T>C (p.Ser2471Pro) 146883683 MedGen:CN169374 15 28447562 28447562 A G 215492 single nucleotide variant NM_004667.5(HERC2):c.2747-3C>A 200632307 MedGen:CN169374 15 28255999 28255999 G T 215492 single nucleotide variant NM_004667.5(HERC2):c.2747-3C>A 200632307 MedGen:CN169374 15 28501145 28501145 G T 215493 single nucleotide variant NM_004667.5(HERC2):c.2389A>G (p.Met797Val) 150930758 MedGen:CN169374 15 28257189 28257189 T C 215493 single nucleotide variant NM_004667.5(HERC2):c.2389A>G (p.Met797Val) 150930758 MedGen:CN169374 15 28502335 28502335 T C 215494 single nucleotide variant NM_004667.5(HERC2):c.905C>T (p.Thr302Met) 150363648 MedGen:CN169374 15 28272900 28272900 G A 215494 single nucleotide variant NM_004667.5(HERC2):c.905C>T (p.Thr302Met) 150363648 MedGen:CN169374 15 28518046 28518046 G A 215495 single nucleotide variant NM_004667.5(HERC2):c.821C>G (p.Ala274Gly) 773700445 MedGen:CN169374 15 28272984 28272984 G C 215495 single nucleotide variant NM_004667.5(HERC2):c.821C>G (p.Ala274Gly) 773700445 MedGen:CN169374 15 28518130 28518130 G C 215496 single nucleotide variant NM_004667.5(HERC2):c.815C>T (p.Thr272Met) 201979656 MedGen:CN169374 15 28272990 28272990 G A 215496 single nucleotide variant NM_004667.5(HERC2):c.815C>T (p.Thr272Met) 201979656 MedGen:CN169374 15 28518136 28518136 G A 236894 single nucleotide variant NM_004667.5(HERC2):c.7729G>A (p.Val2577Ile) 146366728 MedGen:CN221809 15 28443903 28443903 C T 236894 single nucleotide variant NM_004667.5(HERC2):c.7729G>A (p.Val2577Ile) 146366728 MedGen:CN221809 15 28198757 28198757 C T 236921 single nucleotide variant NM_004667.5(HERC2):c.7316C>A (p.Ala2439Asp) 200823016 MedGen:CN221809 15 28447657 28447657 G T 236921 single nucleotide variant NM_004667.5(HERC2):c.7316C>A (p.Ala2439Asp) 200823016 MedGen:CN221809 15 28202511 28202511 G T 237158 single nucleotide variant NM_004667.5(HERC2):c.5132C>T (p.Thr1711Ile) 751891639 MedGen:CN221809 15 28474481 28474481 G A 237158 single nucleotide variant NM_004667.5(HERC2):c.5132C>T (p.Thr1711Ile) 751891639 MedGen:CN221809 15 28229335 28229335 G A 247100 single nucleotide variant NM_004667.5(HERC2):c.7361C>T (p.Ser2454Leu) 879255382 MedGen:CN169374 15 28447612 28447612 G A 247100 single nucleotide variant NM_004667.5(HERC2):c.7361C>T (p.Ser2454Leu) 879255382 MedGen:CN169374 15 28202466 28202466 G A 360135 single nucleotide variant NM_004667.5(HERC2):c.6488T>C (p.Ile2163Thr) 1057518478 MedGen:CN169374 15 28214143 28214143 A G 360135 single nucleotide variant NM_004667.5(HERC2):c.6488T>C (p.Ile2163Thr) 1057518478 MedGen:CN169374 15 28459289 28459289 A G 360137 single nucleotide variant NM_004667.5(HERC2):c.983G>A (p.Arg328His) 751715258 MedGen:CN169374 15 28272315 28272315 C T 360137 single nucleotide variant NM_004667.5(HERC2):c.983G>A (p.Arg328His) 751715258 MedGen:CN169374 15 28517461 28517461 C T 360968 deletion NM_004667.5(HERC2):c.6976delC (p.Leu2326Terfs) 1057518934 Human Phenotype Ontology:HP:0007360,MedGen:CN006441;Human Phenotype Ontology:HP:0002283,MedGen:CN002073;Human Phenotype Ontology:HP:0002079,MedGen:C1853617;Human Phenotype Ontology:HP:0010864,MedGen:C0036857;Human Phenotype Ontology:HP:0001270,MedGen:CN001164;Human Phenotype Ontology:HP:0001319,MedGen:C1834679;Human Phenotype Ontology:HP:0000609,MedGen:C1843493;Human Phenotype Ontology:HP:0002385,MedGen:CN002166 15 28456241 28456241 G - 360968 deletion NM_004667.5(HERC2):c.6976delC (p.Leu2326Terfs) 1057518934 Human Phenotype Ontology:HP:0007360,MedGen:CN006441;Human Phenotype Ontology:HP:0002283,MedGen:CN002073;Human Phenotype Ontology:HP:0002079,MedGen:C1853617;Human Phenotype Ontology:HP:0010864,MedGen:C0036857;Human Phenotype Ontology:HP:0001270,MedGen:CN001164;Human Phenotype Ontology:HP:0001319,MedGen:C1834679;Human Phenotype Ontology:HP:0000609,MedGen:C1843493;Human Phenotype Ontology:HP:0002385,MedGen:CN002166 15 28211095 28211095 G -

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 15 28356859 rs1129038 C T rs1129038 2.58E-08 Melanoma HPOID:0002861 DOID:8923 G UTR-3 GWASdb_trait 15 28356859 rs1129038 C T rs1129038 4.00E-08 Vitiligo HPOID:0001045 DOID:12306 G UTR-3 GWASdb_trait 15 28356859 rs1129038 C T rs1129038 3.61E-31 Brown eye color HPOID:0000478 DOID:240 G UTR-3 GWASdb_trait 15 28356859 rs1129038 C T rs1129038 4.99E-37 Eye color HPOID:0000478 DOID:240 G UTR-3 GWASdb_trait 15 28359258 rs12593929 G A rs12593929 1.01E-09 Eye color HPOID:0000478 DOID:240 G intron GWASdb_trait 15 28359258 rs12593929 G A rs12593929 1.94E-09 Brown eye color HPOID:0000478 DOID:240 G intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 1.00E-77 Black vs. red hair color HPOID:0002297 DOID:421 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 4.00E-103 Black vs. red hair color HPOID:0002297 DOID:421 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 1.00E-300 Eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 1.00E-300 Eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 3.00E-52 Eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 9.00E-88 Hair color HPOID:0009887 DOID:421 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 4.31E-08 Melanoma HPOID:0002861 DOID:8923 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 4.50E-05 Vitiligo HPOID:0001045 DOID:12306 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 3.61E-31 Brown eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 4.99E-37 Eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 1.00E-158 Eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 1.00E-167 Hair color HPOID:0009887 DOID:421 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 1.00E-177 Eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 1.00E-22 Tanning HPOID:0000992 DOID:4159|DOID:37 A intron GWASdb_trait 15 28365618 rs12913832 A G rs12913832 2.10E-05 Sunburns HPOID:0008069|HPOID:0001000 DOID:4159|DOID:37 A intron GWASdb_trait 15 28365733 rs7183877 C A rs7183877 2.20E-72 Hair, eye and skin pigmentation HPOID:0009887|HPOID:0000478|HPOID:0001000 DOID:421|DOID:240|DOID:37 C intron GWASdb_trait 15 28365733 rs7183877 C A rs7183877 6.18E-11 Iris color HPOID:0001100 DOID:240 C intron GWASdb_trait 15 28365733 rs7183877 C A rs7183877 1.50E-107 Skin sensitivity to sun HPOID:0000992 DOID:37 C intron GWASdb_trait 15 28368969 rs11635884 C T rs11635884 5.01E-20 Common traits (Other) HPOID:0000118 NA T intron GWASdb_trait 15 28374012 rs3935591 T C rs3935591 1.44E-13 Eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28374012 rs3935591 T C rs3935591 6.23E-12 Brown eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28386626 rs11636232 C T rs11636232 1.98E-12 Black vs. red hair color HPOID:0002297 DOID:421 C cds-synon GWASdb_trait 15 28386626 rs11636232 C T rs11636232 1.28E-10 Eye color HPOID:0000478 DOID:240 C cds-synon GWASdb_trait 15 28386626 rs11636232 C T rs11636232 4.27E-09 Brown eye color HPOID:0000478 DOID:240 C cds-synon GWASdb_trait 15 28440287 rs6497287 T C rs6497287 5.05E-15 Iris color HPOID:0001100 DOID:240 T intron GWASdb_trait 15 28440287 rs6497287 T C rs6497287 5.20E-05 Prostate cancer(aggressive) HPOID:0012125 DOID:10283 T intron GWASdb_trait 15 28443658 rs8041209 G T rs8041209 2.03E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 15 28443658 rs8041209 G T rs8041209 6.60E-22 Iris color HPOID:0001100 DOID:240 T intron GWASdb_trait 15 28488888 rs8028689 T C rs8028689 6.06E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 15 28488888 rs8028689 T C rs8028689 7.30E-38 Hair, eye and skin pigmentation HPOID:0009887|HPOID:0000478|HPOID:0001000 DOID:421|DOID:240|DOID:37 C intron GWASdb_trait 15 28488888 rs8028689 T C rs8028689 1.22E-21 Iris color HPOID:0001100 DOID:240 C intron GWASdb_trait 15 28488888 rs8028689 T C rs8028689 5.66E-08 Black vs. red hair color HPOID:0002297 DOID:421 C intron GWASdb_trait 15 28488888 rs8028689 T C rs8028689 3.60E-58 Skin sensitivity to sun HPOID:0000992 DOID:37 C intron GWASdb_trait 15 28488888 rs8028689 T C rs8028689 1.11E-07 Eye color HPOID:0000478 DOID:240 C intron GWASdb_trait 15 28488888 rs8028689 T C rs8028689 7.00E-06 Multiple myeloma (IgH translocation) HPOID:0006775 DOID:9538 C intron GWASdb_trait 15 28494032 rs2240204 G A rs2240204 7.30E-38 Hair, eye and skin pigmentation HPOID:0009887|HPOID:0000478|HPOID:0001000 DOID:421|DOID:240|DOID:37 C intron GWASdb_trait 15 28494032 rs2240204 G A rs2240204 7.15E-11 Iris color HPOID:0001100 DOID:240 C intron GWASdb_trait 15 28494032 rs2240204 G A rs2240204 3.60E-58 Skin sensitivity to sun HPOID:0000992 DOID:37 C intron GWASdb_trait 15 28496195 rs6497292 A G rs6497292 3.99E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 15 28496195 rs6497292 A G rs6497292 8.16E-14 Iris color HPOID:0001100 DOID:240 G intron GWASdb_trait 15 28510895 rs2240202 G A rs2240202 2.23E-22 Iris color HPOID:0001100 DOID:240 C intron GWASdb_trait 15 28513364 rs916977 T C rs916977 1.00E-43 Iris color HPOID:0001100 DOID:240 A intron GWASdb_trait 15 28513364 rs916977 T C rs916977 5.42E-08 Black vs. red hair color HPOID:0002297 DOID:421 A intron GWASdb_trait 15 28513364 rs916977 T C rs916977 3.29E-16 Eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28513364 rs916977 T C rs916977 6.35E-14 Brown eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28513513 rs916976 A G rs916976 8.17E-05 Asthma HPOID:0002099 DOID:2841 C intron GWASdb_trait 15 28516084 rs8039195 C T rs8039195 8.80E-99 Hair, eye and skin pigmentation HPOID:0009887|HPOID:0000478|HPOID:0001000 DOID:421|DOID:240|DOID:37 C intron GWASdb_trait 15 28516084 rs8039195 C T rs8039195 1.78E-23 Iris color HPOID:0001100 DOID:240 C intron GWASdb_trait 15 28516084 rs8039195 C T rs8039195 5.42E-08 Black vs. red hair color HPOID:0002297 DOID:421 C intron GWASdb_trait 15 28516084 rs8039195 C T rs8039195 4.00E-150 Skin sensitivity to sun HPOID:0000992 DOID:37 C intron GWASdb_trait 15 28516084 rs8039195 C T rs8039195 2.77E-18 Eye color HPOID:0000478 DOID:240 C intron GWASdb_trait 15 28520506 rs16950979 A G rs16950979 7.30E-38 Hair, eye and skin pigmentation HPOID:0009887|HPOID:0000478|HPOID:0001000 DOID:421|DOID:240|DOID:37 A intron GWASdb_trait 15 28520506 rs16950979 A G rs16950979 7.02E-11 Iris color HPOID:0001100 DOID:240 A intron GWASdb_trait 15 28520506 rs16950979 A G rs16950979 3.80E-58 Skin sensitivity to sun HPOID:0000992 DOID:37 A intron GWASdb_trait 15 28522684 rs2346050 T C rs2346050 6.32E-19 Iris color HPOID:0001100 DOID:240 G intron GWASdb_trait 15 28526228 rs16950987 G A rs16950987 7.30E-38 Hair, eye and skin pigmentation HPOID:0009887|HPOID:0000478|HPOID:0001000 DOID:421|DOID:240|DOID:37 A intron GWASdb_trait 15 28526228 rs16950987 G A rs16950987 8.28E-11 Iris color HPOID:0001100 DOID:240 A intron GWASdb_trait 15 28526228 rs16950987 G A rs16950987 3.60E-58 Skin sensitivity to sun HPOID:0000992 DOID:37 A intron GWASdb_trait 15 28526228 rs16950987 G A rs16950987 1.12E-08 Eye color HPOID:0000478 DOID:240 A intron GWASdb_trait 15 28530182 rs1667394 C T rs1667394 1.00E-241 Blue vs. brown eyes HPOID:0000478 DOID:240 G intron GWASdb_trait 15 28530182 rs1667394 C T rs1667394 2.00E-53 Blue vs. green eyes HPOID:0000478 DOID:240 G intron GWASdb_trait 15 28530182 rs1667394 C T rs1667394 6.00E-35 Blond vs. brown hair color HPOID:0009887 DOID:421 G intron GWASdb_trait 15 28530182 rs1667394 C T rs1667394 8.47E-31 Iris color HPOID:0001100 DOID:240 G intron GWASdb_trait 15 28530182 rs1667394 C T rs1667394 6.10E-173 Skin sensitivity to sun HPOID:0000992 DOID:37 G intron GWASdb_trait 15 28530182 rs1667394 C T rs1667394 2.00E-20 Eye color HPOID:0000478 DOID:240 G intron GWASdb_trait 15 28530182 rs1667394 C T rs1667394 4.92E-16 Eye color HPOID:0000478 DOID:240 G intron GWASdb_trait 15 28530182 rs1667394 C T rs1667394 7.95E-14 Brown eye color HPOID:0000478 DOID:240 G intron GWASdb_trait 15 28530359 rs12592730 G A rs12592730 2.58E-22 Iris color HPOID:0001100 DOID:240 G intron GWASdb_trait 15 28535266 rs1635168 A C rs1635168 5.90E-28 Hair, eye and skin pigmentation HPOID:0009887|HPOID:0000478|HPOID:0001000 DOID:421|DOID:240|DOID:37 T intron GWASdb_trait 15 28535266 rs1635168 A C rs1635168 1.48E-11 Iris color HPOID:0001100 DOID:240 T intron GWASdb_trait 15 28535266 rs1635168 A C rs1635168 1.40E-44 Skin sensitivity to sun HPOID:0000992 DOID:37 T intron GWASdb_trait 15 28535266 rs1635168 A C rs1635168 1.17E-09 Eye color HPOID:0000478 DOID:240 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000128731.15 HERC2 605837