Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 243871 single nucleotide variant NM_020760.2(HECW2):c.4334A>G (p.Glu1445Gly) 878854424 MedGen:CN239935,OMIM:617268;MedGen:CN221809 2 197084837 197084837 T C 243871 single nucleotide variant NM_020760.2(HECW2):c.4334A>G (p.Glu1445Gly) 878854424 MedGen:CN239935,OMIM:617268;MedGen:CN221809 2 196220113 196220113 T C 243874 single nucleotide variant NM_020760.2(HECW2):c.3572G>A (p.Arg1191Gln) 878854416 MedGen:CN239935,OMIM:617268;MedGen:CN221809 2 196242162 196242162 C T 243874 single nucleotide variant NM_020760.2(HECW2):c.3572G>A (p.Arg1191Gln) 878854416 MedGen:CN239935,OMIM:617268;MedGen:CN221809 2 197106886 197106886 C T 243876 single nucleotide variant NM_020760.2(HECW2):c.3577T>G (p.Phe1193Val) 878854422 MedGen:CN239935,OMIM:617268;MedGen:CN221809 2 196242157 196242157 A C 243876 single nucleotide variant NM_020760.2(HECW2):c.3577T>G (p.Phe1193Val) 878854422 MedGen:CN239935,OMIM:617268;MedGen:CN221809 2 197106881 197106881 A C 243879 single nucleotide variant NM_020760.2(HECW2):c.3988C>T (p.Arg1330Trp) 878854417 MedGen:CN239935,OMIM:617268;MedGen:CN221809 2 197090524 197090524 G A 243879 single nucleotide variant NM_020760.2(HECW2):c.3988C>T (p.Arg1330Trp) 878854417 MedGen:CN239935,OMIM:617268;MedGen:CN221809 2 196225800 196225800 G A 248549 single nucleotide variant NM_020760.2(HECW2):c.3394G>A (p.Asp1132Asn) 552109642 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 2 197122572 197122572 C T 248549 single nucleotide variant NM_020760.2(HECW2):c.3394G>A (p.Asp1132Asn) 552109642 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 2 196257848 196257848 C T 248550 deletion NM_020760.2(HECW2):c.2270_2272delAAG (p.Glu757del) 757981529 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 2 197183342 197183344 CTT - 248550 deletion NM_020760.2(HECW2):c.2270_2272delAAG (p.Glu757del) 757981529 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 2 196318618 196318620 CTT - 248551 deletion NM_020760.2(HECW2):c.1249_1251delAAT (p.Asn417del) 774571391 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 2 197184363 197184365 ATT - 248551 deletion NM_020760.2(HECW2):c.1249_1251delAAT (p.Asn417del) 774571391 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 2 196319639 196319641 ATT - 359336 single nucleotide variant NM_020760.2(HECW2):c.1887C>G (p.Ser629Arg) 1057518434 MedGen:CN169374 2 196319003 196319003 G C 359336 single nucleotide variant NM_020760.2(HECW2):c.1887C>G (p.Ser629Arg) 1057518434 MedGen:CN169374 2 197183727 197183727 G C

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 2 197322628 rs6728749 T C rs6728749 7.57E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_drug 2 197352884 rs16852469 A G rs16852469 3.86E-04 ATORVASTATIN SERINE ENDOPEPTIDASES|PYRROLES|PCSK9 PROTEIN, HUMAN|HEPTANOIC ACIDS|APOLIPOPROTEINS E|PROPROTEIN CONVERTASES Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 A intron GWASdb_drug 2 197085823 rs2290512 C T rs2290512 4.80E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 2 197097950 rs4241188 G A rs4241188 0.00000077 Joint damage severity in rheumatoid arthritis HPOID:0001370 DOID:7148 G intron GWASdb_trait 2 197104208 rs10185953 T C rs10185953 7.24E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 2 197104208 rs10185953 T C rs10185953 5.20E-06 Bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 2 197109893 rs7575017 T G rs7575017 4.90E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 2 197134790 rs6746308 G A rs6746308 8.95E-04 Myopia (pathological) HPOID:0000545 DOID:11830 G intron GWASdb_trait 2 197135806 rs4850693 T C rs4850693 7.98E-04 Myopia (pathological) HPOID:0000545 DOID:11830 T intron GWASdb_trait 2 197153259 rs4850695 G A rs4850695 4.62E-06 Aging (time to event) HPOID:0000118 NA G intron GWASdb_trait 2 197156918 rs6730618 T C rs6730618 9.15E-05 Serum metabolites HPOID:0011111 NA C intron GWASdb_trait 2 197164694 rs11888904 G A rs11888904 5.15E-05 Serum metabolites HPOID:0011111 NA A intron GWASdb_trait 2 197164694 rs11888904 G A rs11888904 4.57E-04 Smoking initiation HPOID:0000707 DOID:0050742 A intron GWASdb_trait 2 197164952 rs13394918 C T rs13394918 6.20E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 2 197170701 rs13016354 G A rs13016354 0.000000792 Left atrial diameter HPOID:0001627 DOID:6000|DOID:5844 G intron GWASdb_trait 2 197174387 rs6713102 A G rs6713102 3.51E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 A intron GWASdb_trait 2 197197092 rs2168369 A G rs2168369 1.20E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 2 197197233 rs16849755 C A,G,T rs16849755 2.30E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 2 197202607 rs4296447 C G rs4296447 5.30E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 2 197247574 rs11888148 A T rs11888148 3.56E-06 Phospholipid levels (plasma) HPOID:0003119 DOID:9352|DOID:3393 A intron GWASdb_trait 2 197263337 rs17831149 C T rs17831149 1.10E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 2 197311265 rs1528398 T C rs1528398 2.59E-04 Smoking initiation HPOID:0000707 DOID:0050742 G intron GWASdb_trait 2 197311265 rs1528398 T C rs1528398 6.81E-05 Smoking quantity HPOID:0000707 DOID:0050742 G intron GWASdb_trait 2 197315114 rs6721157 T C rs6721157 6.13E-04 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 2 197318105 rs1405886 T C rs1405886 4.22E-04 Schizophrenia HPOID:0100753 DOID:5419 A intron GWASdb_trait 2 197322628 rs6728749 T C rs6728749 7.57E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_trait 2 197322628 rs6728749 T C rs6728749 3.40E-04 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 2 197327735 rs9677260 G T rs9677260 1.76E-05 Amyotrophic lateral sclerosis (sporadic) HPOID:0007354 DOID:332 G intron GWASdb_trait 2 197352884 rs16852469 A G rs16852469 3.86E-04 Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 A intron GWASdb_trait 2 197404714 rs4341955 G A rs4341955 2.87E-04 Coronary heart disease HPOID:0001677 DOID:3393 G intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs10167754 2 197370569 197370569 intronic 0.991322 0.00378525559653499 GWAS of prostate cancer rs4341955 2 197404714 197404714 intronic 0.974319 0.0112988282777525 GWAS of prostate cancer rs1358401 2 197321827 197321827 intronic 0.916497 0.0378689522899567 GWAS of prostate cancer rs6721157 2 197315114 197315114 intronic 0.899278 0.046106031067216 GWAS of prostate cancer rs10497786 2 197309807 197309807 intronic 0.893123 0.0490887263939246 GWAS of prostate cancer rs7587067 2 197259243 197259243 intronic 0.879732 0.05564961040427711 GWAS of prostate cancer rs941374 2 197311340 197311340 intronic 0.823573 0.0842978997218316 GWAS of prostate cancer rs9288260 2 197127830 197127830 intronic 0.802403 0.0956074562575659 GWAS of prostate cancer rs6735220 2 197255486 197255486 intronic 0.786016 0.104568613450431 GWAS of prostate cancer rs9677260 2 197327735 197327735 intronic 0.760726 0.11877174022774 GWAS of prostate cancer rs17244073 2 197351151 197351151 intronic 0.716549 0.14475410575235398 GWAS of prostate cancer rs2124384 2 197169190 197169190 intronic 0.670469 0.17362129751436098

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000138411.10 HECW2 617245