Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 359193 deletion NM_173685.2(NSMCE2):c.346delT (p.Ser116Leufs) -1 MedGen:CN239567,OMIM:617253 8 126194426 126194426 T - 359193 deletion NM_173685.2(NSMCE2):c.346delT (p.Ser116Leufs) -1 MedGen:CN239567,OMIM:617253 8 125182184 125182184 T - 359194 duplication NM_173685.2(NSMCE2):c.697_700dupAGGG (p.Ala234Glufs) -1 MedGen:CN239567,OMIM:617253 8 125366838 125366841 AGGG AGGGAGGG 359194 duplication NM_173685.2(NSMCE2):c.697_700dupAGGG (p.Ala234Glufs) -1 MedGen:CN239567,OMIM:617253 8 126379080 126379083 AGGG AGGGAGGG

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 8 126328383 rs7004739 G A rs7004739 8.62E-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 8 126355162 rs9297716 G A rs9297716 2.25E-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 G intron GWASdb_drug 8 126132816 rs7831515 C T rs7831515 3.44E-04 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait 8 126132816 rs7831515 C T rs7831515 3.80E-04 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait 8 126224517 rs4871574 G A rs4871574 4.88E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 8 126224517 rs4871574 G A rs4871574 5.42E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 8 126224719 rs11995484 G A rs11995484 6.20E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 8 126224719 rs11995484 G A rs11995484 6.57E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 8 126254259 rs3955404 C T rs3955404 5.35E-04 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait 8 126254259 rs3955404 C T rs3955404 6.97E-04 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait 8 126267630 rs7008482 T G rs7008482 6.80E-04 Alcohol dependence HPOID:0000707 DOID:0050741 G intron GWASdb_trait 8 126283766 rs7011185 T C rs7011185 2.44E-04 Bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 8 126284010 rs11779422 G C rs11779422 0.00000188 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 G intron GWASdb_trait 8 126285326 rs10112737 C T rs10112737 1.44E-04 Stroke HPOID:0001297 DOID:6713 C intron GWASdb_trait 8 126287888 rs7845165 G A rs7845165 8.42E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 8 126302789 rs3812467 G A rs3812467 2.81E-04 Body mass index HPOID:0001507 DOID:9970 C intron GWASdb_trait 8 126302789 rs3812467 G A rs3812467 2.92E-04 Body mass index HPOID:0001507 DOID:9970 C intron GWASdb_trait 8 126303493 rs7003102 A G rs7003102 3.46E-06 Myopia (pathological) HPOID:0000545 DOID:11830 A intron GWASdb_trait 8 126303493 rs7003102 A G rs7003102 2.54E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 8 126303493 rs7003102 A G rs7003102 4.02E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 8 126303493 rs7003102 A G rs7003102 5.14E-05 Obsessive-compulsive disorder HPOID:0000722 DOID:10933 A intron GWASdb_trait 8 126303493 rs7003102 A G rs7003102 5.14E-05 Obsessive-compulsive disorder HPOID:0000722 DOID:10933 A intron GWASdb_trait 8 126303847 rs7007866 G A rs7007866 1.69E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 8 126303847 rs7007866 G A rs7007866 3.15E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 8 126303867 rs6989594 T G rs6989594 2.91E-04 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait 8 126303867 rs6989594 T G rs6989594 3.56E-04 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait 8 126328383 rs7004739 G A rs7004739 8.62E-04 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_trait 8 126328383 rs7004739 G A rs7004739 2.49E-05 Behcet's disease HPOID:0011955 DOID:13241 A intron GWASdb_trait 8 126328383 rs7004739 G A rs7004739 2.14E-05 Behcet's disease HPOID:0011955 DOID:13241 A intron GWASdb_trait 8 126338887 rs10956241 A G rs10956241 8.53E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 G intron GWASdb_trait 8 126346977 rs2385092 G A rs2385092 0.00000499 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 G intron GWASdb_trait 8 126351822 rs4870938 G A rs4870938 3.13E-05 Myopia (pathological) HPOID:0000545 DOID:11830 G intron GWASdb_trait 8 126355162 rs9297716 G A rs9297716 2.25E-04 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 G intron GWASdb_trait 8 126368375 rs7822592 G A rs7822592 9.64E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000156831.7 NSMCE2 617246