Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23336 single nucleotide variant NM_139343.2(BIN1):c.105G>T (p.Lys35Asn) 121909273 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127834262 127834262 C A 23336 single nucleotide variant NM_139343.2(BIN1):c.105G>T (p.Lys35Asn) 121909273 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127076686 127076686 C A 23337 single nucleotide variant NM_139343.2(BIN1):c.451G>A (p.Asp151Asn) 121909274 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127826568 127826568 C T 23337 single nucleotide variant NM_139343.2(BIN1):c.451G>A (p.Asp151Asn) 121909274 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127068992 127068992 C T 23338 single nucleotide variant NM_139343.2(BIN1):c.1723A>T (p.Lys575Ter) 121909275 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127806161 127806161 T A 23338 single nucleotide variant NM_139343.2(BIN1):c.1723A>T (p.Lys575Ter) 121909275 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127048585 127048585 T A 23339 single nucleotide variant NM_139343.2(BIN1):c.461G>A (p.Arg154Gln) 267606681 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127826558 127826558 C T 23339 single nucleotide variant NM_139343.2(BIN1):c.461G>A (p.Arg154Gln) 267606681 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127068982 127068982 C T 167854 single nucleotide variant NM_139343.2(BIN1):c.1132-7T>C 115938552 MedGen:CN169374 2 127811595 127811595 A G 167854 single nucleotide variant NM_139343.2(BIN1):c.1132-7T>C 115938552 MedGen:CN169374 2 127054019 127054019 A G 167855 single nucleotide variant NM_139343.2(BIN1):c.1362G>T (p.Gly454=) 61748155 MedGen:CN239284;MedGen:CN169374 2 127809840 127809840 C A 167855 single nucleotide variant NM_139343.2(BIN1):c.1362G>T (p.Gly454=) 61748155 MedGen:CN239284;MedGen:CN169374 2 127052264 127052264 C A 167856 single nucleotide variant NM_139343.2(BIN1):c.1461C>T (p.Ser487=) 34647988 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127808730 127808730 G A 167856 single nucleotide variant NM_139343.2(BIN1):c.1461C>T (p.Ser487=) 34647988 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127051154 127051154 G A 167857 single nucleotide variant NM_139343.2(BIN1):c.1595C>T (p.Thr532Met) 112318500 MedGen:CN239284;MedGen:CN169374 2 127808076 127808076 G A 167857 single nucleotide variant NM_139343.2(BIN1):c.1595C>T (p.Thr532Met) 112318500 MedGen:CN239284;MedGen:CN169374 2 127050500 127050500 G A 167858 single nucleotide variant NM_139343.2(BIN1):c.1625A>G (p.Lys542Arg) 138047593 MedGen:CN169374 2 127808046 127808046 T C 167858 single nucleotide variant NM_139343.2(BIN1):c.1625A>G (p.Lys542Arg) 138047593 MedGen:CN169374 2 127050470 127050470 T C 167859 single nucleotide variant NM_139343.2(BIN1):c.1710C>T (p.Asp570=) 587783342 MedGen:CN169374 2 127806174 127806174 G A 167859 single nucleotide variant NM_139343.2(BIN1):c.1710C>T (p.Asp570=) 587783342 MedGen:CN169374 2 127048598 127048598 G A 167860 single nucleotide variant NM_139343.2(BIN1):c.1713G>A (p.Trp571Ter) 587783343 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127806171 127806171 C T 167860 single nucleotide variant NM_139343.2(BIN1):c.1713G>A (p.Trp571Ter) 587783343 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127048595 127048595 C T 167861 single nucleotide variant NM_139343.2(BIN1):c.30G>A (p.Thr10=) 35535012 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204;MedGen:CN239284;MedGen:CN169374 2 127864490 127864490 C T 167861 single nucleotide variant NM_139343.2(BIN1):c.30G>A (p.Thr10=) 35535012 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204;MedGen:CN239284;MedGen:CN169374 2 127106914 127106914 C T 167862 single nucleotide variant NM_139343.2(BIN1):c.486T>C (p.Thr162=) 1060743 MedGen:CN239284;MedGen:CN169374 2 127826533 127826533 A G 167862 single nucleotide variant NM_139343.2(BIN1):c.486T>C (p.Thr162=) 1060743 MedGen:CN239284;MedGen:CN169374 2 127068957 127068957 A G 167863 single nucleotide variant NM_139343.2(BIN1):c.696C>A (p.Asn232Lys) 143820618 MedGen:CN169374 2 127821511 127821511 G T 167863 single nucleotide variant NM_139343.2(BIN1):c.696C>A (p.Asn232Lys) 143820618 MedGen:CN169374 2 127063935 127063935 G T 167864 single nucleotide variant NM_139343.2(BIN1):c.698+10A>G 72481904 MedGen:CN239284;MedGen:CN169374 2 127821499 127821499 T C 167864 single nucleotide variant NM_139343.2(BIN1):c.698+10A>G 72481904 MedGen:CN239284;MedGen:CN169374 2 127063923 127063923 T C 167865 single nucleotide variant NM_139343.2(BIN1):c.714C>T (p.Tyr238=) 1137845 MedGen:CN239284;MedGen:CN169374 2 127821207 127821207 G A 167865 single nucleotide variant NM_139343.2(BIN1):c.714C>T (p.Tyr238=) 1137845 MedGen:CN239284;MedGen:CN169374 2 127063631 127063631 G A 167866 single nucleotide variant NM_139343.2(BIN1):c.775-4G>A 61748157 MedGen:CN239284;MedGen:CN169374 2 127819777 127819777 C T 167866 single nucleotide variant NM_139343.2(BIN1):c.775-4G>A 61748157 MedGen:CN239284;MedGen:CN169374 2 127062201 127062201 C T 167867 single nucleotide variant NM_139343.2(BIN1):c.858-12C>A 6720741 MedGen:CN239284;MedGen:CN169374 2 127816743 127816743 G T 167867 single nucleotide variant NM_139343.2(BIN1):c.858-12C>A 6720741 MedGen:CN239284;MedGen:CN169374 2 127059167 127059167 G T 167868 single nucleotide variant NM_139343.2(BIN1):c.888C>T (p.Ser296=) 114833236 MedGen:CN239284;MedGen:CN169374 2 127816701 127816701 G A 167868 single nucleotide variant NM_139343.2(BIN1):c.888C>T (p.Ser296=) 114833236 MedGen:CN239284;MedGen:CN169374 2 127059125 127059125 G A 167869 single nucleotide variant NM_139343.2(BIN1):c.894G>A (p.Ser298=) 2228955 MedGen:CN239284;MedGen:CN169374 2 127816695 127816695 C T 167869 single nucleotide variant NM_139343.2(BIN1):c.894G>A (p.Ser298=) 2228955 MedGen:CN239284;MedGen:CN169374 2 127059119 127059119 C T 167870 single nucleotide variant NM_139343.2(BIN1):c.957C>A (p.Ala319=) 2276579 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127816632 127816632 G T 167870 single nucleotide variant NM_139343.2(BIN1):c.957C>A (p.Ala319=) 2276579 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127059056 127059056 G T 167871 single nucleotide variant NM_139343.2(BIN1):c.957C>G (p.Ala319=) 2276579 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127816632 127816632 G C 167871 single nucleotide variant NM_139343.2(BIN1):c.957C>G (p.Ala319=) 2276579 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127059056 127059056 G C 167872 single nucleotide variant NM_139343.2(BIN1):c.957C>T (p.Ala319=) 2276579 MedGen:CN239284;MedGen:CN169374 2 127816632 127816632 G A 167872 single nucleotide variant NM_139343.2(BIN1):c.957C>T (p.Ala319=) 2276579 MedGen:CN239284;MedGen:CN169374 2 127059056 127059056 G A 191039 single nucleotide variant NM_139343.2(BIN1):c.942C>T (p.His314=) 370911793 MedGen:CN169374 2 127816647 127816647 G A 191039 single nucleotide variant NM_139343.2(BIN1):c.942C>T (p.His314=) 370911793 MedGen:CN169374 2 127059071 127059071 G A 191444 single nucleotide variant NM_139343.2(BIN1):c.1142C>T (p.Pro381Leu) 794727107 MedGen:CN169374 2 127811578 127811578 G A 191444 single nucleotide variant NM_139343.2(BIN1):c.1142C>T (p.Pro381Leu) 794727107 MedGen:CN169374 2 127054002 127054002 G A 206839 single nucleotide variant NM_139343.2(BIN1):c.1263+11C>T 78967885 MedGen:CN239284;MedGen:CN169374 2 127810987 127810987 G A 206839 single nucleotide variant NM_139343.2(BIN1):c.1263+11C>T 78967885 MedGen:CN239284;MedGen:CN169374 2 127053411 127053411 G A 250141 single nucleotide variant NM_139343.2(BIN1):c.1587C>T (p.His529=) 144458131 MedGen:CN169374 2 127808084 127808084 G A 250141 single nucleotide variant NM_139343.2(BIN1):c.1587C>T (p.His529=) 144458131 MedGen:CN169374 2 127050508 127050508 G A 250142 single nucleotide variant NM_139343.2(BIN1):c.1573-18G>C 12466912 MedGen:CN169374 2 127808116 127808116 C G 250142 single nucleotide variant NM_139343.2(BIN1):c.1573-18G>C 12466912 MedGen:CN169374 2 127050540 127050540 C G 250143 single nucleotide variant NM_139343.2(BIN1):c.1292C>T (p.Pro431Leu) 141119288 MedGen:CN169374 2 127809910 127809910 G A 250143 single nucleotide variant NM_139343.2(BIN1):c.1292C>T (p.Pro431Leu) 141119288 MedGen:CN169374 2 127052334 127052334 G A 250144 single nucleotide variant NM_139343.2(BIN1):c.1264-8G>A 776696908 MedGen:CN169374 2 127809946 127809946 C T 250144 single nucleotide variant NM_139343.2(BIN1):c.1264-8G>A 776696908 MedGen:CN169374 2 127052370 127052370 C T 250145 single nucleotide variant NM_139343.2(BIN1):c.1131+18C>T 191760397 MedGen:CN169374 2 127815031 127815031 G A 250145 single nucleotide variant NM_139343.2(BIN1):c.1131+18C>T 191760397 MedGen:CN169374 2 127057455 127057455 G A 250146 single nucleotide variant NM_139343.2(BIN1):c.1003-15G>A 149290511 MedGen:CN169374 2 127815192 127815192 C T 250146 single nucleotide variant NM_139343.2(BIN1):c.1003-15G>A 149290511 MedGen:CN169374 2 127057616 127057616 C T 250147 single nucleotide variant NM_139343.2(BIN1):c.906C>T (p.Gly302=) 371258305 MedGen:CN169374 2 127059107 127059107 G A 250147 single nucleotide variant NM_139343.2(BIN1):c.906C>T (p.Gly302=) 371258305 MedGen:CN169374 2 127816683 127816683 G A 250148 single nucleotide variant NM_139343.2(BIN1):c.699-13C>T 373662459 MedGen:CN169374 2 127821235 127821235 G A 250148 single nucleotide variant NM_139343.2(BIN1):c.699-13C>T 373662459 MedGen:CN169374 2 127063659 127063659 G A 250149 single nucleotide variant NM_139343.2(BIN1):c.630C>T (p.Ile210=) 886038728 MedGen:CN169374 2 127821577 127821577 G A 250149 single nucleotide variant NM_139343.2(BIN1):c.630C>T (p.Ile210=) 886038728 MedGen:CN169374 2 127064001 127064001 G A 250150 single nucleotide variant NM_139343.2(BIN1):c.402C>T (p.Pro134=) 144136512 MedGen:CN169374 2 127827580 127827580 G A 250150 single nucleotide variant NM_139343.2(BIN1):c.402C>T (p.Pro134=) 144136512 MedGen:CN169374 2 127070004 127070004 G A 250151 single nucleotide variant NM_139343.2(BIN1):c.316-19G>A 369840788 MedGen:CN169374 2 127827685 127827685 C T 250151 single nucleotide variant NM_139343.2(BIN1):c.316-19G>A 369840788 MedGen:CN169374 2 127070109 127070109 C T 250152 single nucleotide variant NM_139343.2(BIN1):c.-27C>T 11554586 MedGen:CN239284;MedGen:CN169374 2 127864546 127864546 G A 250152 single nucleotide variant NM_139343.2(BIN1):c.-27C>T 11554586 MedGen:CN239284;MedGen:CN169374 2 127106970 127106970 G A 268256 single nucleotide variant NM_139343.2(BIN1):c.1154C>T (p.Ser385Leu) 368616652 MedGen:CN169374 2 127811566 127811566 G A 268256 single nucleotide variant NM_139343.2(BIN1):c.1154C>T (p.Ser385Leu) 368616652 MedGen:CN169374 2 127053990 127053990 G A 270551 single nucleotide variant NM_139343.2(BIN1):c.1371+1G>T 556129959 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127809830 127809830 C A 270551 single nucleotide variant NM_139343.2(BIN1):c.1371+1G>T 556129959 MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:C0410204 2 127052254 127052254 C A 270786 single nucleotide variant NM_139343.2(BIN1):c.1060A>G (p.Lys354Glu) 886043420 MedGen:CN169374 2 127815120 127815120 T C 270786 single nucleotide variant NM_139343.2(BIN1):c.1060A>G (p.Lys354Glu) 886043420 MedGen:CN169374 2 127057544 127057544 T C 271588 single nucleotide variant NM_139343.2(BIN1):c.1353C>T (p.Ala451=) 552244334 MedGen:CN169374 2 127809849 127809849 G A 271588 single nucleotide variant NM_139343.2(BIN1):c.1353C>T (p.Ala451=) 552244334 MedGen:CN169374 2 127052273 127052273 G A 272294 single nucleotide variant NM_139343.2(BIN1):c.924C>T (p.Pro308=) 367611371 MedGen:CN169374 2 127816665 127816665 G A 272294 single nucleotide variant NM_139343.2(BIN1):c.924C>T (p.Pro308=) 367611371 MedGen:CN169374 2 127059089 127059089 G A 272612 single nucleotide variant NM_139343.2(BIN1):c.1577A>G (p.Gln526Arg) 886043878 MedGen:CN169374 2 127808094 127808094 T C 272612 single nucleotide variant NM_139343.2(BIN1):c.1577A>G (p.Gln526Arg) 886043878 MedGen:CN169374 2 127050518 127050518 T C 275116 single nucleotide variant NM_139343.2(BIN1):c.715G>A (p.Val239Ile) 146573197 MedGen:CN169374 2 127821206 127821206 C T 275116 single nucleotide variant NM_139343.2(BIN1):c.715G>A (p.Val239Ile) 146573197 MedGen:CN169374 2 127063630 127063630 C T 275424 single nucleotide variant NM_139343.2(BIN1):c.1003-16C>T 547659375 MedGen:CN169374 2 127815193 127815193 G A 275424 single nucleotide variant NM_139343.2(BIN1):c.1003-16C>T 547659375 MedGen:CN169374 2 127057617 127057617 G A 281761 single nucleotide variant NM_139343.2(BIN1):c.*194C>T 565856632 MedGen:CN239284 2 127048332 127048332 G A 281761 single nucleotide variant NM_139343.2(BIN1):c.*194C>T 565856632 MedGen:CN239284 2 127805908 127805908 G A 281768 single nucleotide variant NM_139343.2(BIN1):c.1473T>C (p.Pro491=) 779756862 MedGen:CN239284 2 127808477 127808477 A G 281768 single nucleotide variant NM_139343.2(BIN1):c.1473T>C (p.Pro491=) 779756862 MedGen:CN239284 2 127050901 127050901 A G 281777 single nucleotide variant NM_139343.2(BIN1):c.961G>A (p.Gly321Arg) 557276019 MedGen:CN239284 2 127059052 127059052 C T 281777 single nucleotide variant NM_139343.2(BIN1):c.961G>A (p.Gly321Arg) 557276019 MedGen:CN239284 2 127816628 127816628 C T 281779 single nucleotide variant NM_139343.2(BIN1):c.681G>A (p.Leu227=) 199658397 MedGen:CN239284 2 127063950 127063950 C T 281779 single nucleotide variant NM_139343.2(BIN1):c.681G>A (p.Leu227=) 199658397 MedGen:CN239284 2 127821526 127821526 C T 281781 single nucleotide variant NM_139343.2(BIN1):c.-62G>A 886054836 MedGen:CN239284 2 127107005 127107005 C T 281781 single nucleotide variant NM_139343.2(BIN1):c.-62G>A 886054836 MedGen:CN239284 2 127864581 127864581 C T 281782 single nucleotide variant NM_139343.2(BIN1):c.-163T>C 560690864 MedGen:CN239284 2 127107106 127107106 A G 281782 single nucleotide variant NM_139343.2(BIN1):c.-163T>C 560690864 MedGen:CN239284 2 127864682 127864682 A G 281784 single nucleotide variant NM_139343.2(BIN1):c.-197C>A 886054840 MedGen:CN239284 2 127107140 127107140 G T 281784 single nucleotide variant NM_139343.2(BIN1):c.-197C>A 886054840 MedGen:CN239284 2 127864716 127864716 G T 281789 single nucleotide variant NM_139343.2(BIN1):c.-366C>A 886054843 MedGen:CN239284 2 127107309 127107309 G T 281789 single nucleotide variant NM_139343.2(BIN1):c.-366C>A 886054843 MedGen:CN239284 2 127864885 127864885 G T 282397 deletion NM_139343.2(BIN1):c.*479delA 367627116 MedGen:CN239284 2 127048047 127048047 T - 282397 deletion NM_139343.2(BIN1):c.*479delA 367627116 MedGen:CN239284 2 127805623 127805623 T - 282398 single nucleotide variant NM_139343.2(BIN1):c.*449G>A 369704619 MedGen:CN239284 2 127048077 127048077 C T 282398 single nucleotide variant NM_139343.2(BIN1):c.*449G>A 369704619 MedGen:CN239284 2 127805653 127805653 C T 282400 single nucleotide variant NM_139343.2(BIN1):c.*214G>A 886054832 MedGen:CN239284 2 127048312 127048312 C T 282400 single nucleotide variant NM_139343.2(BIN1):c.*214G>A 886054832 MedGen:CN239284 2 127805888 127805888 C T 282403 single nucleotide variant NM_139343.2(BIN1):c.*82C>T 111649895 MedGen:CN239284 2 127048444 127048444 G A 282403 single nucleotide variant NM_139343.2(BIN1):c.*82C>T 111649895 MedGen:CN239284 2 127806020 127806020 G A 282407 single nucleotide variant NM_139343.2(BIN1):c.1322C>T (p.Thr441Ile) 886054834 MedGen:CN239284 2 127809880 127809880 G A 282407 single nucleotide variant NM_139343.2(BIN1):c.1322C>T (p.Thr441Ile) 886054834 MedGen:CN239284 2 127052304 127052304 G A 282410 single nucleotide variant NM_139343.2(BIN1):c.1143G>A (p.Pro381=) 372360787 MedGen:CN239284 2 127811577 127811577 C T 282410 single nucleotide variant NM_139343.2(BIN1):c.1143G>A (p.Pro381=) 372360787 MedGen:CN239284 2 127054001 127054001 C T 282411 single nucleotide variant NM_139343.2(BIN1):c.1131+9C>T 138606879 MedGen:CN239284 2 127815040 127815040 G A 282411 single nucleotide variant NM_139343.2(BIN1):c.1131+9C>T 138606879 MedGen:CN239284 2 127057464 127057464 G A 283967 single nucleotide variant NM_139343.2(BIN1):c.1515C>G (p.Thr505=) 375583449 MedGen:CN239284 2 127808435 127808435 G C 283967 single nucleotide variant NM_139343.2(BIN1):c.1515C>G (p.Thr505=) 375583449 MedGen:CN239284 2 127050859 127050859 G C 283952 single nucleotide variant NM_139343.2(BIN1):c.*413G>A 886054829 MedGen:CN239284 2 127048113 127048113 C T 283952 single nucleotide variant NM_139343.2(BIN1):c.*413G>A 886054829 MedGen:CN239284 2 127805689 127805689 C T 283964 single nucleotide variant NM_139343.2(BIN1):c.*301C>T 886054830 MedGen:CN239284 2 127048225 127048225 G A 283964 single nucleotide variant NM_139343.2(BIN1):c.*301C>T 886054830 MedGen:CN239284 2 127805801 127805801 G A 283965 single nucleotide variant NM_139343.2(BIN1):c.1727A>T (p.Glu576Val) 775119768 MedGen:CN239284 2 127806157 127806157 T A 283965 single nucleotide variant NM_139343.2(BIN1):c.1727A>T (p.Glu576Val) 775119768 MedGen:CN239284 2 127048581 127048581 T A 283977 single nucleotide variant NM_139343.2(BIN1):c.1328C>T (p.Ala443Val) 758494519 MedGen:CN239284 2 127809874 127809874 G A 283977 single nucleotide variant NM_139343.2(BIN1):c.1328C>T (p.Ala443Val) 758494519 MedGen:CN239284 2 127052298 127052298 G A 283988 duplication NM_139343.2(BIN1):c.1132-7_1132-5dupTGC 748026377 MedGen:CN239284 2 127811593 127811595 GCA GCAGCA 283988 duplication NM_139343.2(BIN1):c.1132-7_1132-5dupTGC 748026377 MedGen:CN239284 2 127054017 127054019 GCA GCAGCA 283989 single nucleotide variant NM_139343.2(BIN1):c.1047G>A (p.Pro349=) 148945502 MedGen:CN239284 2 127057557 127057557 C T 283989 single nucleotide variant NM_139343.2(BIN1):c.1047G>A (p.Pro349=) 148945502 MedGen:CN239284 2 127815133 127815133 C T 284009 single nucleotide variant NM_139343.2(BIN1):c.384G>A (p.Thr128=) 61748158 MedGen:CN239284 2 127070022 127070022 C T 284009 single nucleotide variant NM_139343.2(BIN1):c.384G>A (p.Thr128=) 61748158 MedGen:CN239284 2 127827598 127827598 C T 284017 single nucleotide variant NM_139343.2(BIN1):c.330G>A (p.Leu110=) 746946704 MedGen:CN239284 2 127070076 127070076 C T 284017 single nucleotide variant NM_139343.2(BIN1):c.330G>A (p.Leu110=) 746946704 MedGen:CN239284 2 127827652 127827652 C T 284028 single nucleotide variant NM_139343.2(BIN1):c.84+9G>A 762680903 MedGen:CN239284 2 127106851 127106851 C T 284028 single nucleotide variant NM_139343.2(BIN1):c.84+9G>A 762680903 MedGen:CN239284 2 127864427 127864427 C T 284030 single nucleotide variant NM_139343.2(BIN1):c.-272G>A 886054842 MedGen:CN239284 2 127107215 127107215 C T 284030 single nucleotide variant NM_139343.2(BIN1):c.-272G>A 886054842 MedGen:CN239284 2 127864791 127864791 C T 284039 single nucleotide variant NM_139343.2(BIN1):c.-314G>C 531361957 MedGen:CN239284 2 127107257 127107257 C G 284039 single nucleotide variant NM_139343.2(BIN1):c.-314G>C 531361957 MedGen:CN239284 2 127864833 127864833 C G 284183 single nucleotide variant NM_139343.2(BIN1):c.*501G>A 77059199 MedGen:CN239284 2 127048025 127048025 C T 284183 single nucleotide variant NM_139343.2(BIN1):c.*501G>A 77059199 MedGen:CN239284 2 127805601 127805601 C T 284197 single nucleotide variant NM_139343.2(BIN1):c.*243T>G 886054831 MedGen:CN239284 2 127048283 127048283 A C 284197 single nucleotide variant NM_139343.2(BIN1):c.*243T>G 886054831 MedGen:CN239284 2 127805859 127805859 A C 284199 single nucleotide variant NM_139343.2(BIN1):c.*55G>A 886054833 MedGen:CN239284 2 127048471 127048471 C T 284199 single nucleotide variant NM_139343.2(BIN1):c.*55G>A 886054833 MedGen:CN239284 2 127806047 127806047 C T 284200 single nucleotide variant NM_139343.2(BIN1):c.1479C>T (p.Val493=) 773313892 MedGen:CN239284 2 127808471 127808471 G A 284200 single nucleotide variant NM_139343.2(BIN1):c.1479C>T (p.Val493=) 773313892 MedGen:CN239284 2 127050895 127050895 G A 284201 single nucleotide variant NM_139343.2(BIN1):c.679C>G (p.Leu227Val) 886054835 MedGen:CN239284 2 127063952 127063952 G C 284201 single nucleotide variant NM_139343.2(BIN1):c.679C>G (p.Leu227Val) 886054835 MedGen:CN239284 2 127821528 127821528 G C 284206 deletion NM_139343.2(BIN1):c.-114delG 886054837 MedGen:CN239284 2 127107057 127107057 C - 284206 deletion NM_139343.2(BIN1):c.-114delG 886054837 MedGen:CN239284 2 127864633 127864633 C - 284207 duplication NM_139343.2(BIN1):c.-177_-174dupGGCT 886054838 MedGen:CN239284 2 127107117 127107120 AGCC AGCCAGCC 284207 duplication NM_139343.2(BIN1):c.-177_-174dupGGCT 886054838 MedGen:CN239284 2 127864693 127864696 AGCC AGCCAGCC 284217 single nucleotide variant NM_139343.2(BIN1):c.-192G>A 886054839 MedGen:CN239284 2 127107135 127107135 C T 284217 single nucleotide variant NM_139343.2(BIN1):c.-192G>A 886054839 MedGen:CN239284 2 127864711 127864711 C T 284220 single nucleotide variant NM_139343.2(BIN1):c.-214T>G 886054841 MedGen:CN239284 2 127107157 127107157 A C 284220 single nucleotide variant NM_139343.2(BIN1):c.-214T>G 886054841 MedGen:CN239284 2 127864733 127864733 A C 353537 single nucleotide variant NM_139343.2(BIN1):c.-389T>A 56827597 MedGen:CN239284 2 127864908 127864908 A T 353537 single nucleotide variant NM_139343.2(BIN1):c.-389T>A 56827597 MedGen:CN239284 2 127107332 127107332 A 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 2 127821207 rs1137845 G A rs1137845 1.20E-04 Alcohol dependence HPOID:0000707 DOID:0050741 C cds-synon GWASdb_trait 2 127826533 rs1060743 A G rs1060743 5.95E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T cds-synon GWASdb_trait 2 127826533 rs1060743 A G rs1060743 1.11E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T cds-synon GWASdb_trait 2 127830219 rs17014873 A C rs17014873 0.0000501 Amyotrophic lateral sclerosis HPOID:0007354 DOID:332 A intron GWASdb_trait 2 127839781 rs10194375 C A rs10194375 7.91E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 C intron GWASdb_trait 2 127841769 rs10200967 C T rs10200967 5.86E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 C intron GWASdb_trait 2 127841930 rs17014923 C T rs17014923 4.72E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 2 127851697 rs11678252 A G rs11678252 4.29E-04 White matter integrity HPOID:0002500 DOID:3312|DOID:936 G intron GWASdb_trait 2 127852021 rs10207628 G A,C rs10207628 4.01E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 2 127852021 rs10207628 G A,C rs10207628 1.00E-06 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 2 127859418 rs873270 T C rs873270 9.94E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 2 127860830 rs754107 C G rs754107 5.45E-05 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 2 127860830 rs754107 C G rs754107 4.62E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 2 127860830 rs754107 C G rs754107 1.60E-09 Progranulin levels HPOID:0011018 DOID:9255 C intron GWASdb_trait 2 127860830 rs754107 C G rs754107 1.60E-09 Myocardial infarction HPOID:0001658 DOID:5844 C 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 rs1060743 2 127826533 127826533 exonic 0.863881 0.0635460776631514 GWAS of prostate cancer rs873270 2 127859418 127859418 intronic 0.795619 0.0992948541340423 GWAS of prostate cancer rs880436 2 127817546 127817546 intronic 0.765589 0.116004315139286

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000136717.14 BIN1 601248