Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 167274 deletion NM_001144967.2(NEDD4L):c.297+16701_297+17823del -1 MedGen:CN220684 18 58268755 58269877 na na 167274 deletion NM_001144967.2(NEDD4L):c.297+16701_297+17823del -1 MedGen:CN220684 18 55935987 55937109 na na 227105 single nucleotide variant NM_001144967.2(NEDD4L):c.2036A>G (p.Tyr679Cys) 879255599 MedGen:CN239092,OMIM:617201;MedGen:CN236338 18 56033433 56033433 A G 227105 single nucleotide variant NM_001144967.2(NEDD4L):c.2036A>G (p.Tyr679Cys) 879255599 MedGen:CN239092,OMIM:617201;MedGen:CN236338 18 58366201 58366201 A G 227106 single nucleotide variant NM_001144967.2(NEDD4L):c.2082G>T (p.Gln694His) 879255598 MedGen:CN239092,OMIM:617201;MedGen:CN236338 18 58367764 58367764 G T 227106 single nucleotide variant NM_001144967.2(NEDD4L):c.2082G>T (p.Gln694His) 879255598 MedGen:CN239092,OMIM:617201;MedGen:CN236338 18 56034996 56034996 G T 227107 single nucleotide variant NM_001144967.2(NEDD4L):c.2677G>A (p.Glu893Lys) 879255597 MedGen:CN239092,OMIM:617201;MedGen:CN236338 18 58390667 58390667 G A 227107 single nucleotide variant NM_001144967.2(NEDD4L):c.2677G>A (p.Glu893Lys) 879255597 MedGen:CN239092,OMIM:617201;MedGen:CN236338 18 56057899 56057899 G A 227108 single nucleotide variant NM_001144967.2(NEDD4L):c.2690G>A (p.Arg897Gln) 879255596 MedGen:CN239092,OMIM:617201;MedGen:CN236338 18 56057912 56057912 G A 227108 single nucleotide variant NM_001144967.2(NEDD4L):c.2690G>A (p.Arg897Gln) 879255596 MedGen:CN239092,OMIM:617201;MedGen:CN236338 18 58390680 58390680 G A 227795 single nucleotide variant NM_001144968.1(NEDD4L):c.24G>A (p.Gln8=) 4149601 MedGen:CN236526;MedGen:CN236559 18 58149559 58149559 G A 227795 single nucleotide variant NM_001144968.1(NEDD4L):c.24G>A (p.Gln8=) 4149601 MedGen:CN236526;MedGen:CN236559 18 55816791 55816791 G A 243078 single nucleotide variant NM_015277.5(NEDD4L):c.639C>T (p.Asn213=) 202008394 MedGen:CN169374 18 55992353 55992353 C T 243078 single nucleotide variant NM_015277.5(NEDD4L):c.639C>T (p.Asn213=) 202008394 MedGen:CN169374 18 58325121 58325121 C T 243079 single nucleotide variant NM_015277.5(NEDD4L):c.2692+6C>T 12964776 MedGen:CN169374 18 56057980 56057980 C T 243079 single nucleotide variant NM_015277.5(NEDD4L):c.2692+6C>T 12964776 MedGen:CN169374 18 58390748 58390748 C T

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 18 55810733 rs549476 A G rs549476 3.00E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_drug 18 55828612 rs8088164 T C rs8088164 5.33E-05 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 18 55910523 rs158856 C T rs158856 7.00E-06 CAFFEINE RECEPTOR, ADENOSINE A2A|PRIMA1 PROTEIN, HUMAN|NERVE TISSUE PROTEINS|MEMBRANE PROTEINS Insomnia (caffeine-induced) HPOID:0100785 DOID:8611 C intron GWASdb_drug 18 55915325 rs2288772 G A rs2288772 1.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 18 55938204 rs7230600 G A rs7230600 9.14E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_drug 18 55941906 rs4941373 G C rs4941373 8.50E-06 TESTOSTERONE LIN-28 PROTEIN, HUMAN|BIOLOGICAL MARKERS|RNA-BINDING PROTEINS Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 G intron GWASdb_drug 18 55957987 rs4058295 C A rs4058295 8.30E-06 TESTOSTERONE LIN-28 PROTEIN, HUMAN|BIOLOGICAL MARKERS|RNA-BINDING PROTEINS Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 C intron GWASdb_drug 18 55983364 rs2288775 A G rs2288775 5.50E-06 TESTOSTERONE LIN-28 PROTEIN, HUMAN|BIOLOGICAL MARKERS|RNA-BINDING PROTEINS Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 G intron GWASdb_drug 18 56041732 rs7242150 T G rs7242150 8.10E-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 T intron GWASdb_drug 18 55720220 rs8097619 C T rs8097619 6.33E-04 Insulin resistance HPOID:0000855 DOID:9352 T intron GWASdb_trait 18 55721004 rs9989622 C G rs9989622 9.89E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 18 55721004 rs9989622 C G rs9989622 6.89E-04 Insulin resistance HPOID:0000855 DOID:9352 G intron GWASdb_trait 18 55775343 rs1787777 T C rs1787777 6.11E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 18 55783497 rs529445 C A rs529445 3.00E-06 Amyotrophic lateral sclerosis (sporadic) HPOID:0007354 DOID:332 C intron GWASdb_trait 18 55784763 rs554192 A G rs554192 2.24E-04 Premature ovarian failure HPOID:0008209 DOID:5426 T intron GWASdb_trait 18 55810733 rs549476 A G rs549476 3.00E-06 Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_trait 18 55811058 rs878396 G A rs878396 3.85E-05 Atopy HPOID:0001047 DOID:0060056 G intron GWASdb_trait 18 55828612 rs8088164 T C rs8088164 5.33E-05 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_trait 18 55903021 rs158865 C T rs158865 1.97E-05 Crohn's disease HPOID:0100280 DOID:8778 T intron GWASdb_trait 18 55903721 rs158862 C T rs158862 5.71E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 18 55909630 rs17064520 C T rs17064520 3.22E-07 Asthma HPOID:0002099 DOID:2841 C intron GWASdb_trait 18 55910523 rs158856 C T rs158856 7.00E-06 Insomnia (caffeine-induced) HPOID:0100785 DOID:8611 C intron GWASdb_trait 18 55912732 rs646509 A C rs646509 1.20E-16 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 A missense GWASdb_trait 18 55912732 rs646509 A C rs646509 2.50E-34 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 A missense GWASdb_trait 18 55912732 rs646509 A C rs646509 2.60E-07 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 A missense GWASdb_trait 18 55912732 rs646509 A C rs646509 2.70E-47 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 A missense GWASdb_trait 18 55915325 rs2288772 G A rs2288772 1.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 18 55936104 rs1453082 G T rs1453082 2.03E-05 Endometrial cancer HPOID:0012114 DOID:1380 C intron GWASdb_trait 18 55936104 rs1453082 G T rs1453082 6.61E-05 Endometrial cancer HPOID:0012114 DOID:1380 C intron GWASdb_trait 18 55936104 rs1453082 G T rs1453082 8.91E-05 Endometrial cancer HPOID:0012114 DOID:1380 C intron GWASdb_trait 18 55937757 rs12604734 T C rs12604734 3.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 18 55941906 rs4941373 G C rs4941373 8.50E-06 Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 G intron GWASdb_trait 18 55957987 rs4058295 C A rs4058295 8.30E-06 Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 C intron GWASdb_trait 18 55959751 rs9952789 G C rs9952789 9.00E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 18 55983364 rs2288775 A G rs2288775 5.50E-06 Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 G intron GWASdb_trait 18 55988294 rs7243164 G A rs7243164 1.65E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 18 55991546 rs10503022 T C rs10503022 6.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 18 55995721 rs4058287 A G rs4058287 9.29E-06 Nephrolithiasis HPOID:0000787 DOID:585 A,G intron GWASdb_trait 18 56009604 rs12454023 C T rs12454023 8.00E-07 Migraine with aura HPOID:0002077 DOID:10024 C intron GWASdb_trait 18 56009604 rs12454023 C T rs12454023 8.66E-04 Migraine - clinic-based HPOID:0002076 DOID:6364 C intron GWASdb_trait 18 56041732 rs7242150 T G rs7242150 8.10E-04 Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 T intron GWASdb_trait 18 56051135 rs8098336 T C rs8098336 7.13E-05 Cognitive test performance HPOID:0100543 DOID:1561 T intron GWASdb_trait 18 56063153 rs6566965 C T rs6566965 3.34E-05 Cognitive test performance HPOID:0100543 DOID:1561 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000049759.17 NEDD4L 606384