Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20091 single nucleotide variant NM_015071.4(ARHGAP26):c.1250A>G (p.Asn417Ser) 121918546 MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834 5 142421420 142421420 A G 20091 single nucleotide variant NM_015071.4(ARHGAP26):c.1250A>G (p.Asn417Ser) 121918546 MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834 5 143041855 143041855 A G 20092 insertion ARHGAP26, 52-BP INS -1 MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834 na -1 -1 na na 20093 insertion ARHGAP26, 74-BP INS -1 MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834 na -1 -1 na na 137279 single nucleotide variant NM_015071.4(ARHGAP26):c.1107T>C (p.Pro369=) 139391817 MedGen:CN169374 5 142311690 142311690 T C 137279 single nucleotide variant NM_015071.4(ARHGAP26):c.1107T>C (p.Pro369=) 139391817 MedGen:CN169374 5 142932125 142932125 T C 137280 indel NM_015071.4(ARHGAP26):c.1245delTinsGTGGGG (p.Val416Trpfs) 587778047 MedGen:CN169374 5 142421415 142421415 T GTGGGG 137280 indel NM_015071.4(ARHGAP26):c.1245delTinsGTGGGG (p.Val416Trpfs) 587778047 MedGen:CN169374 5 143041850 143041850 T GTGGGG 137281 single nucleotide variant NM_015071.4(ARHGAP26):c.1775A>G (p.Lys592Arg) 587778048 MedGen:CN169374 5 142513608 142513608 A G 137281 single nucleotide variant NM_015071.4(ARHGAP26):c.1775A>G (p.Lys592Arg) 587778048 MedGen:CN169374 5 143134043 143134043 A G 137282 single nucleotide variant NM_015071.4(ARHGAP26):c.1829C>T (p.Thr610Ile) 200573018 MedGen:CN169374 5 142513662 142513662 C T 137282 single nucleotide variant NM_015071.4(ARHGAP26):c.1829C>T (p.Thr610Ile) 200573018 MedGen:CN169374 5 143134097 143134097 C T 137283 single nucleotide variant NM_015071.4(ARHGAP26):c.2350G>A (p.Asp784Asn) 587778049 MedGen:CN169374 5 142593647 142593647 G A 137283 single nucleotide variant NM_015071.4(ARHGAP26):c.2350G>A (p.Asp784Asn) 587778049 MedGen:CN169374 5 143214082 143214082 G A 137284 single nucleotide variant NM_015071.4(ARHGAP26):c.307C>T (p.Arg103Trp) 587778050 MedGen:CN169374 5 142254731 142254731 C T 137284 single nucleotide variant NM_015071.4(ARHGAP26):c.307C>T (p.Arg103Trp) 587778050 MedGen:CN169374 5 142875166 142875166 C T 137285 single nucleotide variant NM_015071.4(ARHGAP26):c.2168A>G (p.His723Arg) 562055157 MedGen:CN169374 5 142586942 142586942 A G 137285 single nucleotide variant NM_015071.4(ARHGAP26):c.2168A>G (p.His723Arg) 562055157 MedGen:CN169374 5 143207377 143207377 A G 162182 copy number gain GRCh38/hg38 5q31.3(chr5:143198264-143252477)x3 -1 - 5 142577829 142632042 na na 162182 copy number gain GRCh38/hg38 5q31.3(chr5:143198264-143252477)x3 -1 - 5 143198264 143252477 na na 162182 copy number gain GRCh38/hg38 5q31.3(chr5:143198264-143252477)x3 -1 - 5 142558022 142612235 na na

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 5 142441794 rs3776331 T C rs3776331 8.00E-06 URIC ACID SLC2A9 PROTEIN, HUMAN|GLUCOSE TRANSPORT PROTEINS, FACILITATIVE Uric acid levels HPOID:0000079 DOID:13189 G intron GWASdb_drug 5 142151659 rs6898675 C T rs6898675 1.40E-05 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 142153351 rs6894433 T C rs6894433 1.40E-05 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 5 142183997 rs415786 T A rs415786 8.70E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 5 142199167 rs3733734 T C rs3733734 2.99E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 A intron GWASdb_trait 5 142238119 rs10044036 C T rs10044036 8.14E-05 AIDS HPOID:0002721 DOID:635 C intron GWASdb_trait 5 142246733 rs3733732 C G rs3733732 5.76E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 5 142251892 rs707177 G A rs707177 6.40E-05 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 5 142252257 rs447923 C T rs447923 9.20E-05 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 5 142252549 rs10039856 C T rs10039856 9.57E-05 Body Mass Index HPOID:0001507 DOID:9970 T intron GWASdb_trait 5 142253673 rs26707 C G rs26707 3.00E-05 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 5 142256860 rs26706 G C rs26706 3.20E-05 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 5 142256913 rs10515517 G A rs10515517 2.30E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 5 142259083 rs27779 C A rs27779 2.50E-05 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 5 142265745 rs27546 A T rs27546 3.50E-05 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 5 142289541 rs830532 C T rs830532 3.70E-05 Malarial infection HPOID:0002718 DOID:12365 A intron GWASdb_trait 5 142387961 rs3822398 C T rs3822398 1.59E-05 Schizophrenia HPOID:0100753 DOID:5419 A intron GWASdb_trait 5 142394380 rs245852 A G rs245852 6.94E-05 Neuroblastoma HPOID:0003006 DOID:769 T intron GWASdb_trait 5 142395016 rs7723504 T C rs7723504 5.15E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 5 142421931 rs246664 G T rs246664 1.50E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 5 142441794 rs3776331 T C rs3776331 9.42E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 5 142441794 rs3776331 T C rs3776331 8.00E-06 Uric acid levels HPOID:0000079 DOID:13189 G intron GWASdb_trait 5 142484605 rs2398613 C T rs2398613 9.77E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 142516897 rs246600 C T rs246600 7.67E-08 Coronary artery disease HPOID:0001677 DOID:3393 A intron GWASdb_trait 5 142529960 rs258799 T G rs258799 1.90E-04 Epilepsy HPOID:0001250 DOID:1826 T intron GWASdb_trait 5 142538417 rs853169 G A rs853169 1.70E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 5 142550251 rs853165 G A rs853165 8.20E-04 Acute lung injury HPOID:0002088 DOID:850 T intron GWASdb_trait 5 142565658 rs7720909 A G rs7720909 6.91E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 5 142604421 rs244468 A G rs244468 3.10E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T UTR-3 GWASdb_trait 5 142605569 rs187729 C T rs187729 4.38E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T UTR-3 GWASdb_trait 5 142606301 rs154787 C A rs154787 4.75E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A UTR-3 GWASdb_trait 5 142606971 rs154786 T C rs154786 4.16E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000145819.15 ARHGAP26 605370