Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 26471 single nucleotide variant ARHGEF6, IVS1AS, T-C, -11 -1 MedGen:C1845526,OMIM:300436 na -1 -1 na na 101079 single nucleotide variant NM_004840.2(ARHGEF6):c.455C>T (p.Thr152Ile) 398124186 MedGen:CN169374 X 135827386 135827386 G A 101079 single nucleotide variant NM_004840.2(ARHGEF6):c.455C>T (p.Thr152Ile) 398124186 MedGen:CN169374 X 136745227 136745227 G A 133896 single nucleotide variant NM_004840.2(ARHGEF6):c.362G>A (p.Arg121His) 35106300 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 135827479 135827479 C T 133896 single nucleotide variant NM_004840.2(ARHGEF6):c.362G>A (p.Arg121His) 35106300 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 136745320 136745320 C T 133897 single nucleotide variant NM_004840.2(ARHGEF6):c.1480-3T>C 138342895 MedGen:CN169374 X 135764130 135764130 A G 133897 single nucleotide variant NM_004840.2(ARHGEF6):c.1480-3T>C 138342895 MedGen:CN169374 X 136681971 136681971 A G 133898 single nucleotide variant NM_004840.2(ARHGEF6):c.2007C>T (p.Ser669=) 12008084 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 135757194 135757194 G A 133898 single nucleotide variant NM_004840.2(ARHGEF6):c.2007C>T (p.Ser669=) 12008084 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 136675035 136675035 G A 189059 single nucleotide variant NM_004840.2(ARHGEF6):c.553G>A (p.Asp185Asn) 755769516 MedGen:CN169374 X 135825852 135825852 C T 189059 single nucleotide variant NM_004840.2(ARHGEF6):c.553G>A (p.Asp185Asn) 755769516 MedGen:CN169374 X 136743693 136743693 C T 208876 single nucleotide variant NM_004840.2(ARHGEF6):c.1653C>T (p.Ala551=) 369955658 MedGen:CN169374 X 135762941 135762941 G A 208876 single nucleotide variant NM_004840.2(ARHGEF6):c.1653C>T (p.Ala551=) 369955658 MedGen:CN169374 X 136680782 136680782 G A 208877 single nucleotide variant NM_004840.2(ARHGEF6):c.1190C>G (p.Thr397Ser) 532348958 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 135770146 135770146 G C 208877 single nucleotide variant NM_004840.2(ARHGEF6):c.1190C>G (p.Thr397Ser) 532348958 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 136687987 136687987 G C 208878 single nucleotide variant NM_004840.2(ARHGEF6):c.942C>T (p.His314=) 34274521 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 135789171 135789171 G A 208878 single nucleotide variant NM_004840.2(ARHGEF6):c.942C>T (p.His314=) 34274521 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 136707012 136707012 G A 208879 single nucleotide variant NM_004840.2(ARHGEF6):c.685G>A (p.Val229Ile) 75329154 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 135814308 135814308 C T 208879 single nucleotide variant NM_004840.2(ARHGEF6):c.685G>A (p.Val229Ile) 75329154 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 136732149 136732149 C T 208880 single nucleotide variant NM_004840.2(ARHGEF6):c.262G>C (p.Asp88His) 149768069 MedGen:CN169374 X 135829739 135829739 C G 208880 single nucleotide variant NM_004840.2(ARHGEF6):c.262G>C (p.Asp88His) 149768069 MedGen:CN169374 X 136747580 136747580 C G 208881 single nucleotide variant NM_004840.2(ARHGEF6):c.169T>C (p.Cys57Arg) 147131853 MedGen:CN169374 X 135861653 135861653 A G 208881 single nucleotide variant NM_004840.2(ARHGEF6):c.169T>C (p.Cys57Arg) 147131853 MedGen:CN169374 X 136779494 136779494 A G 338884 single nucleotide variant NM_004840.2(ARHGEF6):c.*2126G>A 1057515774 MedGen:C3501611,Orphanet:ORPHA777 X 136665903 136665903 C T 338884 single nucleotide variant NM_004840.2(ARHGEF6):c.*2126G>A 1057515774 MedGen:C3501611,Orphanet:ORPHA777 X 135748062 135748062 C T 338888 single nucleotide variant NM_004840.2(ARHGEF6):c.*2062T>C 142057050 MedGen:C3501611,Orphanet:ORPHA777 X 136665967 136665967 A G 338888 single nucleotide variant NM_004840.2(ARHGEF6):c.*2062T>C 142057050 MedGen:C3501611,Orphanet:ORPHA777 X 135748126 135748126 A G 338897 single nucleotide variant NM_004840.2(ARHGEF6):c.*1141G>T 147013994 MedGen:C3501611,Orphanet:ORPHA777 X 136666888 136666888 C A 338897 single nucleotide variant NM_004840.2(ARHGEF6):c.*1141G>T 147013994 MedGen:C3501611,Orphanet:ORPHA777 X 135749047 135749047 C A 338899 single nucleotide variant NM_004840.2(ARHGEF6):c.*1028A>G 747024117 MedGen:C3501611,Orphanet:ORPHA777 X 136667001 136667001 T C 338899 single nucleotide variant NM_004840.2(ARHGEF6):c.*1028A>G 747024117 MedGen:C3501611,Orphanet:ORPHA777 X 135749160 135749160 T C 338906 single nucleotide variant NM_004840.2(ARHGEF6):c.*220T>G 1057515777 MedGen:C3501611,Orphanet:ORPHA777 X 136667809 136667809 A C 338906 single nucleotide variant NM_004840.2(ARHGEF6):c.*220T>G 1057515777 MedGen:C3501611,Orphanet:ORPHA777 X 135749968 135749968 A C 338912 single nucleotide variant NM_004840.2(ARHGEF6):c.*38C>T 747771125 MedGen:C3501611,Orphanet:ORPHA777 X 136667991 136667991 G A 338912 single nucleotide variant NM_004840.2(ARHGEF6):c.*38C>T 747771125 MedGen:C3501611,Orphanet:ORPHA777 X 135750150 135750150 G A 338916 single nucleotide variant NM_004840.2(ARHGEF6):c.642C>T (p.Val214=) 1057515780 MedGen:C3501611,Orphanet:ORPHA777 X 136743604 136743604 G A 338916 single nucleotide variant NM_004840.2(ARHGEF6):c.642C>T (p.Val214=) 1057515780 MedGen:C3501611,Orphanet:ORPHA777 X 135825763 135825763 G A 338920 single nucleotide variant NM_004840.2(ARHGEF6):c.166-11T>C 140322310 MedGen:C3501611,Orphanet:ORPHA777 X 135861667 135861667 A G 338920 single nucleotide variant NM_004840.2(ARHGEF6):c.166-11T>C 140322310 MedGen:C3501611,Orphanet:ORPHA777 X 136779508 136779508 A G 338922 single nucleotide variant NM_004840.2(ARHGEF6):c.-222T>A 1057515783 MedGen:C3501611,Orphanet:ORPHA777 X 135863263 135863263 A T 338922 single nucleotide variant NM_004840.2(ARHGEF6):c.-222T>A 1057515783 MedGen:C3501611,Orphanet:ORPHA777 X 136781104 136781104 A T 348474 single nucleotide variant NM_004840.2(ARHGEF6):c.*2395C>G 751385205 MedGen:C3501611,Orphanet:ORPHA777 X 135747793 135747793 G C 348474 single nucleotide variant NM_004840.2(ARHGEF6):c.*2395C>G 751385205 MedGen:C3501611,Orphanet:ORPHA777 X 136665634 136665634 G C 348476 duplication NM_004840.2(ARHGEF6):c.*1817dupT 751450350 MedGen:C3501611,Orphanet:ORPHA777 X 136666212 136666212 A AA 348476 duplication NM_004840.2(ARHGEF6):c.*1817dupT 751450350 MedGen:C3501611,Orphanet:ORPHA777 X 135748371 135748371 A AA 348477 single nucleotide variant NM_004840.2(ARHGEF6):c.*938A>C 768824651 MedGen:C3501611,Orphanet:ORPHA777 X 136667091 136667091 T G 348477 single nucleotide variant NM_004840.2(ARHGEF6):c.*938A>C 768824651 MedGen:C3501611,Orphanet:ORPHA777 X 135749250 135749250 T G 348480 single nucleotide variant NM_004840.2(ARHGEF6):c.*847C>T 564202199 MedGen:C3501611,Orphanet:ORPHA777 X 136667182 136667182 G A 348480 single nucleotide variant NM_004840.2(ARHGEF6):c.*847C>T 564202199 MedGen:C3501611,Orphanet:ORPHA777 X 135749341 135749341 G A 348490 single nucleotide variant NM_004840.2(ARHGEF6):c.*158A>G 112837910 MedGen:C3501611,Orphanet:ORPHA777 X 136667871 136667871 T C 348490 single nucleotide variant NM_004840.2(ARHGEF6):c.*158A>G 112837910 MedGen:C3501611,Orphanet:ORPHA777 X 135750030 135750030 T C 348491 single nucleotide variant NM_004840.2(ARHGEF6):c.468G>A (p.Thr156=) 1057515781 MedGen:C3501611,Orphanet:ORPHA777 X 136743778 136743778 C T 348491 single nucleotide variant NM_004840.2(ARHGEF6):c.468G>A (p.Thr156=) 1057515781 MedGen:C3501611,Orphanet:ORPHA777 X 135825937 135825937 C T 348494 deletion NM_004840.2(ARHGEF6):c.-92_-91delTA 757215282 MedGen:C3501611,Orphanet:ORPHA777 X 135863132 135863133 TA - 348494 deletion NM_004840.2(ARHGEF6):c.-92_-91delTA 757215282 MedGen:C3501611,Orphanet:ORPHA777 X 136780973 136780974 TA - 348497 single nucleotide variant NM_004840.2(ARHGEF6):c.-232G>A 183947764 MedGen:C3501611,Orphanet:ORPHA777 X 135863273 135863273 C T 348497 single nucleotide variant NM_004840.2(ARHGEF6):c.-232G>A 183947764 MedGen:C3501611,Orphanet:ORPHA777 X 136781114 136781114 C T 348499 single nucleotide variant NM_004840.2(ARHGEF6):c.-324T>C 760853921 MedGen:C3501611,Orphanet:ORPHA777 X 135863365 135863365 A G 348499 single nucleotide variant NM_004840.2(ARHGEF6):c.-324T>C 760853921 MedGen:C3501611,Orphanet:ORPHA777 X 136781206 136781206 A G 352064 single nucleotide variant NM_004840.2(ARHGEF6):c.*2082T>G 144027474 MedGen:C3501611,Orphanet:ORPHA777 X 136665947 136665947 A C 352064 single nucleotide variant NM_004840.2(ARHGEF6):c.*2082T>G 144027474 MedGen:C3501611,Orphanet:ORPHA777 X 135748106 135748106 A C 352065 single nucleotide variant NM_004840.2(ARHGEF6):c.*2021A>G 151143657 MedGen:C3501611,Orphanet:ORPHA777 X 136666008 136666008 T C 352065 single nucleotide variant NM_004840.2(ARHGEF6):c.*2021A>G 151143657 MedGen:C3501611,Orphanet:ORPHA777 X 135748167 135748167 T C 352066 single nucleotide variant NM_004840.2(ARHGEF6):c.*1952A>G 1057515775 MedGen:C3501611,Orphanet:ORPHA777 X 136666077 136666077 T C 352066 single nucleotide variant NM_004840.2(ARHGEF6):c.*1952A>G 1057515775 MedGen:C3501611,Orphanet:ORPHA777 X 135748236 135748236 T C 352067 single nucleotide variant NM_004840.2(ARHGEF6):c.*1828A>G 762807348 MedGen:C3501611,Orphanet:ORPHA777 X 136666201 136666201 T C 352067 single nucleotide variant NM_004840.2(ARHGEF6):c.*1828A>G 762807348 MedGen:C3501611,Orphanet:ORPHA777 X 135748360 135748360 T C 352068 single nucleotide variant NM_004840.2(ARHGEF6):c.*1531C>T 181090402 MedGen:C3501611,Orphanet:ORPHA777 X 136666498 136666498 G A 352068 single nucleotide variant NM_004840.2(ARHGEF6):c.*1531C>T 181090402 MedGen:C3501611,Orphanet:ORPHA777 X 135748657 135748657 G A 352069 single nucleotide variant NM_004840.2(ARHGEF6):c.*149G>A 772239037 MedGen:C3501611,Orphanet:ORPHA777 X 136667880 136667880 C T 352069 single nucleotide variant NM_004840.2(ARHGEF6):c.*149G>A 772239037 MedGen:C3501611,Orphanet:ORPHA777 X 135750039 135750039 C T 352070 single nucleotide variant NM_004840.2(ARHGEF6):c.1446T>C (p.Ser482=) 775489071 MedGen:C3501611,Orphanet:ORPHA777 X 136682791 136682791 A G 352070 single nucleotide variant NM_004840.2(ARHGEF6):c.1446T>C (p.Ser482=) 775489071 MedGen:C3501611,Orphanet:ORPHA777 X 135764950 135764950 A G 352754 single nucleotide variant NM_004840.2(ARHGEF6):c.*2469C>T 189644416 MedGen:C3501611,Orphanet:ORPHA777 X 135747719 135747719 G A 352754 single nucleotide variant NM_004840.2(ARHGEF6):c.*2469C>T 189644416 MedGen:C3501611,Orphanet:ORPHA777 X 136665560 136665560 G A 352755 single nucleotide variant NM_004840.2(ARHGEF6):c.*2346C>T 41312580 MedGen:C3501611,Orphanet:ORPHA777 X 136665683 136665683 G A 352755 single nucleotide variant NM_004840.2(ARHGEF6):c.*2346C>T 41312580 MedGen:C3501611,Orphanet:ORPHA777 X 135747842 135747842 G A 352756 single nucleotide variant NM_004840.2(ARHGEF6):c.*595C>T 1057515776 MedGen:C3501611,Orphanet:ORPHA777 X 136667434 136667434 G A 352756 single nucleotide variant NM_004840.2(ARHGEF6):c.*595C>T 1057515776 MedGen:C3501611,Orphanet:ORPHA777 X 135749593 135749593 G A 352757 single nucleotide variant NM_004840.2(ARHGEF6):c.*545C>T 182548859 MedGen:C3501611,Orphanet:ORPHA777 X 136667484 136667484 G A 352757 single nucleotide variant NM_004840.2(ARHGEF6):c.*545C>T 182548859 MedGen:C3501611,Orphanet:ORPHA777 X 135749643 135749643 G A 352758 deletion NM_004840.2(ARHGEF6):c.*200_*202delGTT 770569536 MedGen:C3501611,Orphanet:ORPHA777 X 136667827 136667829 AAC - 352758 deletion NM_004840.2(ARHGEF6):c.*200_*202delGTT 770569536 MedGen:C3501611,Orphanet:ORPHA777 X 135749986 135749988 AAC - 352759 single nucleotide variant NM_004840.2(ARHGEF6):c.*179C>T 146018376 MedGen:C3501611,Orphanet:ORPHA777 X 136667850 136667850 G A 352759 single nucleotide variant NM_004840.2(ARHGEF6):c.*179C>T 146018376 MedGen:C3501611,Orphanet:ORPHA777 X 135750009 135750009 G A 352760 single nucleotide variant NM_004840.2(ARHGEF6):c.*176G>A 745563328 MedGen:C3501611,Orphanet:ORPHA777 X 136667853 136667853 C T 352760 single nucleotide variant NM_004840.2(ARHGEF6):c.*176G>A 745563328 MedGen:C3501611,Orphanet:ORPHA777 X 135750012 135750012 C T 352761 deletion NM_004840.2(ARHGEF6):c.*131_*134delTCTT 775186031 MedGen:C3501611,Orphanet:ORPHA777 X 136667895 136667898 AAGA - 352761 deletion NM_004840.2(ARHGEF6):c.*131_*134delTCTT 775186031 MedGen:C3501611,Orphanet:ORPHA777 X 135750054 135750057 AAGA - 352762 deletion NM_004840.2(ARHGEF6):c.*121_*124delTCTC 1057515778 MedGen:C3501611,Orphanet:ORPHA777 X 136667905 136667908 GAGA - 352762 deletion NM_004840.2(ARHGEF6):c.*121_*124delTCTC 1057515778 MedGen:C3501611,Orphanet:ORPHA777 X 135750064 135750067 GAGA - 352763 single nucleotide variant NM_004840.2(ARHGEF6):c.*87T>C 1057515779 MedGen:C3501611,Orphanet:ORPHA777 X 136667942 136667942 A G 352763 single nucleotide variant NM_004840.2(ARHGEF6):c.*87T>C 1057515779 MedGen:C3501611,Orphanet:ORPHA777 X 135750101 135750101 A G 352764 single nucleotide variant NM_004840.2(ARHGEF6):c.183A>G (p.Gln61=) 1057515782 MedGen:C3501611,Orphanet:ORPHA777 X 136779480 136779480 T C 352764 single nucleotide variant NM_004840.2(ARHGEF6):c.183A>G (p.Gln61=) 1057515782 MedGen:C3501611,Orphanet:ORPHA777 X 135861639 135861639 T C 360640 single nucleotide variant NM_004840.2(ARHGEF6):c.2170G>A (p.Glu724Lys) 373225685 MedGen:CN169374 X 136669502 136669502 C T 360640 single nucleotide variant NM_004840.2(ARHGEF6):c.2170G>A (p.Glu724Lys) 373225685 MedGen:CN169374 X 135751661 135751661 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 X 135844003 rs111705907 A G rs111705907 1.62E-11 Metabolite levels HPOID:0001939 DOID:655 A intron GWASdb_trait X 135847004 rs630967 C T rs630967 8.97E-04 Type 2 diabetes HPOID:0005978 DOID:9352 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 rs5975773 X 135780209 135780209 intronic 0.849773 0.07069707194889889 GWAS of prostate cancer rs476774 X 135842871 135842871 intronic 0.826739 0.08263157478871619 GWAS of prostate cancer rs4829848 X 135855801 135855801 intronic 0.813426 0.0896819501069086 GWAS of prostate cancer rs4829846 X 135843880 135843880 intronic 0.621851 0.20631366294529402 GWAS of prostate cancer rs5975788 X 135824740 135824740 intronic 0.586148 0.23199271253485101

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000129675.15 ARHGEF6 300267