Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 125905 single nucleotide variant NM_024605.3(ARHGAP10):c.716T>A (p.Phe239Tyr) 483352827 MedGen:CN221809 4 147875034 147875034 T A 125905 single nucleotide variant NM_024605.3(ARHGAP10):c.716T>A (p.Phe239Tyr) 483352827 MedGen:CN221809 4 148796185 148796185 T A 125906 single nucleotide variant NM_024605.3(ARHGAP10):c.822C>T (p.Val274=) 483352830 MedGen:CN221809 4 148796291 148796291 C T 125906 single nucleotide variant NM_024605.3(ARHGAP10):c.822C>T (p.Val274=) 483352830 MedGen:CN221809 4 147875140 147875140 C T 125907 single nucleotide variant NM_024605.3(ARHGAP10):c.1116+21A>G 483352831 MedGen:CN221809 4 147906740 147906740 A G 125907 single nucleotide variant NM_024605.3(ARHGAP10):c.1116+21A>G 483352831 MedGen:CN221809 4 148827891 148827891 A G 125908 single nucleotide variant NM_024605.3(ARHGAP10):c.1468T>C (p.Ser490Pro) 483352828 MedGen:CN221809 4 147965041 147965041 T C 125908 single nucleotide variant NM_024605.3(ARHGAP10):c.1468T>C (p.Ser490Pro) 483352828 MedGen:CN221809 4 148886192 148886192 T C 125909 single nucleotide variant NM_024605.3(ARHGAP10):c.2228A>G (p.His743Arg) 483352829 MedGen:CN221809 4 148985614 148985614 A G 125909 single nucleotide variant NM_024605.3(ARHGAP10):c.2228A>G (p.His743Arg) 483352829 MedGen:CN221809 4 148064463 148064463 A 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 4 148824460 rs4491995 T C rs4491995 2.68E-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 T intron GWASdb_drug 4 148827973 rs11099672 A G rs11099672 1.11E-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 4 148827973 rs11099672 A G rs11099672 6.18E-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 4 148832250 rs4835469 C T rs4835469 5.84E-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 C intron GWASdb_drug 4 148832250 rs4835469 C T rs4835469 6.51E-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 C intron GWASdb_drug 4 148832250 rs4835469 C T rs4835469 5.24E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_drug 4 148861837 rs2635268 A G rs2635268 7.15E-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 T,C intron GWASdb_drug 4 148675193 rs13124167 T C rs13124167 2.28E-07 Breast cancer (survival) HPOID:0003002 DOID:1612 T intron GWASdb_trait 4 148694170 rs9332471 C T rs9332471 7.06E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 4 148695956 rs964170 G T rs964170 1.49E-06 Alcohol and nictotine co-dependence HPOID:0000707 DOID:0050741|DOID:0050742 C intron GWASdb_trait 4 148695956 rs964170 G T rs964170 4.43E-08 Alcohol and nictotine co-dependence HPOID:0000707 DOID:0050741|DOID:0050742 C intron GWASdb_trait 4 148696917 rs11729081 T C rs11729081 3.98E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 4 148730641 rs4835456 A T rs4835456 3.66E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 4 148734627 rs7683103 A G rs7683103 7.16E-04 Obesity (extreme) HPOID:0001513 DOID:9970 G intron GWASdb_trait 4 148735644 rs10519917 C T rs10519917 1.43E-04 Prostate cancer mortality HPOID:0012125 DOID:10283 C intron GWASdb_trait 4 148741158 rs12650219 G A rs12650219 8.25E-05 Calcium intake levels and metabolic syndrome HPOID:0004363|HPOID:0002621|HPOID:0011915 DOID:3146|DOID:4194|DOID:10763|DOID:14221|DOID:10575|DOID:1936 A intron GWASdb_trait 4 148779548 rs10023057 G C rs10023057 5.70E-04 Aortic root size HPOID:0002597 DOID:1287 G intron GWASdb_trait 4 148781196 rs1469865 G A rs1469865 8.18E-04 Aortic root size HPOID:0002597 DOID:1287 C intron GWASdb_trait 4 148824460 rs4491995 T C rs4491995 2.68E-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 T intron GWASdb_trait 4 148827973 rs11099672 A G rs11099672 1.11E-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 4 148827973 rs11099672 A G rs11099672 6.18E-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 4 148832250 rs4835469 C T rs4835469 5.84E-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 C intron GWASdb_trait 4 148832250 rs4835469 C T rs4835469 6.51E-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 C intron GWASdb_trait 4 148832250 rs4835469 C T rs4835469 5.24E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_trait 4 148861837 rs2635268 A G rs2635268 7.15E-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 T,C intron GWASdb_trait 4 148884189 rs7658486 C T rs7658486 1.00E-08 Immune reponse to smallpox (secreted IL-12p40) HPOID:0005368 DOID:8736 C intron GWASdb_trait 4 148928213 rs10003349 G A rs10003349 1.69E-04 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait 4 148928719 rs17676286 G A rs17676286 1.75E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 4 148974602 rs6845865 T C rs6845865 7.00E-07 QT interval HPOID:0012232|HPOID:0001657 DOID:10273|DOID:2843 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000071205.11 ARHGAP10 609746