Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 17981 single nucleotide variant OSTM1, IVS5, G-A, +5 -1 MedGen:C1968603,OMIM:259720 na -1 -1 na na 17982 deletion OSTM1, 2-BP DEL, 415AG -1 MedGen:C1968603,OMIM:259720 na -1 -1 na na 17983 single nucleotide variant NM_014028.3(OSTM1):c.36T>A (p.Cys12Ter) 119460973 MedGen:C1968603,OMIM:259720 6 108395820 108395820 A T 17983 single nucleotide variant NM_014028.3(OSTM1):c.36T>A (p.Cys12Ter) 119460973 MedGen:C1968603,OMIM:259720 6 108074616 108074616 A T 190532 single nucleotide variant NM_014028.3(OSTM1):c.221C>G (p.Pro74Arg) 141735624 Human Phenotype Ontology:HP:0011002,MedGen:CN116734;MedGen:CN169374 6 108395635 108395635 G C 190532 single nucleotide variant NM_014028.3(OSTM1):c.221C>G (p.Pro74Arg) 141735624 Human Phenotype Ontology:HP:0011002,MedGen:CN116734;MedGen:CN169374 6 108074431 108074431 G C 190533 single nucleotide variant NM_014028.3(OSTM1):c.134A>G (p.Asp45Gly) 202093691 MedGen:CN169374 6 108395722 108395722 T C 190533 single nucleotide variant NM_014028.3(OSTM1):c.134A>G (p.Asp45Gly) 202093691 MedGen:CN169374 6 108074518 108074518 T C 192452 deletion NM_014028.3(OSTM1):c.415_416delAG (p.Gln140Glufs) 794727287 MedGen:C1968603,OMIM:259720 6 108385490 108385491 CT - 192452 deletion NM_014028.3(OSTM1):c.415_416delAG (p.Gln140Glufs) 794727287 MedGen:C1968603,OMIM:259720 6 108064286 108064287 CT - 268079 single nucleotide variant NM_014028.3(OSTM1):c.207G>T (p.Gly69=) 80219951 Human Phenotype Ontology:HP:0011002,MedGen:CN116734;MedGen:CN169374 6 108395649 108395649 C A 268079 single nucleotide variant NM_014028.3(OSTM1):c.207G>T (p.Gly69=) 80219951 Human Phenotype Ontology:HP:0011002,MedGen:CN116734;MedGen:CN169374 6 108074445 108074445 C A 272395 single nucleotide variant NM_014028.3(OSTM1):c.238C>G (p.Leu80Val) 754095587 MedGen:CN169374 6 108395618 108395618 G C 272395 single nucleotide variant NM_014028.3(OSTM1):c.238C>G (p.Leu80Val) 754095587 MedGen:CN169374 6 108074414 108074414 G C 275466 single nucleotide variant NM_014028.3(OSTM1):c.143C>G (p.Ser48Trp) 201176284 MedGen:CN169374 6 108395713 108395713 G C 275466 single nucleotide variant NM_014028.3(OSTM1):c.143C>G (p.Ser48Trp) 201176284 MedGen:CN169374 6 108074509 108074509 G C 298640 single nucleotide variant NM_014028.3(OSTM1):c.*2858A>G 534652017 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363131 108363131 T C 298640 single nucleotide variant NM_014028.3(OSTM1):c.*2858A>G 534652017 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108041927 108041927 T C 298641 single nucleotide variant NM_014028.3(OSTM1):c.*2773G>A 886060959 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363216 108363216 C T 298641 single nucleotide variant NM_014028.3(OSTM1):c.*2773G>A 886060959 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042012 108042012 C T 298645 deletion NM_014028.3(OSTM1):c.*2517_*2518delGT 886060960 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042267 108042268 AC - 298645 deletion NM_014028.3(OSTM1):c.*2517_*2518delGT 886060960 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363471 108363472 AC - 298648 deletion NM_014028.3(OSTM1):c.*2517delG 886060961 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042268 108042268 C - 298648 deletion NM_014028.3(OSTM1):c.*2517delG 886060961 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363472 108363472 C - 298649 deletion NM_014028.3(OSTM1):c.*2515_*2516delTT 562640840 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042269 108042270 AA - 298649 deletion NM_014028.3(OSTM1):c.*2515_*2516delTT 562640840 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363473 108363474 AA - 298653 single nucleotide variant NM_014028.3(OSTM1):c.*2371G>A 865891537 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042414 108042414 C T 298653 single nucleotide variant NM_014028.3(OSTM1):c.*2371G>A 865891537 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363618 108363618 C T 298655 single nucleotide variant NM_014028.3(OSTM1):c.*2329G>T 112792700 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042456 108042456 C A 298655 single nucleotide variant NM_014028.3(OSTM1):c.*2329G>T 112792700 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363660 108363660 C A 298656 single nucleotide variant NM_014028.3(OSTM1):c.*2317A>C 527256747 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042468 108042468 T G 298656 single nucleotide variant NM_014028.3(OSTM1):c.*2317A>C 527256747 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363672 108363672 T G 298664 single nucleotide variant NM_014028.3(OSTM1):c.*1574A>G 41287528 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043211 108043211 T C 298664 single nucleotide variant NM_014028.3(OSTM1):c.*1574A>G 41287528 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364415 108364415 T C 298666 single nucleotide variant NM_014028.3(OSTM1):c.*1455C>T 528241865 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043330 108043330 G A 298666 single nucleotide variant NM_014028.3(OSTM1):c.*1455C>T 528241865 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364534 108364534 G A 298667 single nucleotide variant NM_014028.3(OSTM1):c.*1334T>C 9374008 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043451 108043451 A G 298667 single nucleotide variant NM_014028.3(OSTM1):c.*1334T>C 9374008 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364655 108364655 A G 298669 single nucleotide variant NM_014028.3(OSTM1):c.*1082G>A 148730821 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043703 108043703 C T 298669 single nucleotide variant NM_014028.3(OSTM1):c.*1082G>A 148730821 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364907 108364907 C T 298676 single nucleotide variant NM_014028.3(OSTM1):c.*432T>G 369418567 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365557 108365557 A C 298676 single nucleotide variant NM_014028.3(OSTM1):c.*432T>G 369418567 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044353 108044353 A C 298677 single nucleotide variant NM_014028.3(OSTM1):c.933A>G (p.Lys311=) 146289365 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108049269 108049269 T C 298677 single nucleotide variant NM_014028.3(OSTM1):c.933A>G (p.Lys311=) 146289365 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108370473 108370473 T C 298682 single nucleotide variant NM_014028.3(OSTM1):c.156G>C (p.Leu52Phe) 9480830 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108074496 108074496 C G 298682 single nucleotide variant NM_014028.3(OSTM1):c.156G>C (p.Leu52Phe) 9480830 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108395700 108395700 C G 298684 single nucleotide variant NM_014028.3(OSTM1):c.-52G>T 886060974 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108074703 108074703 C A 298684 single nucleotide variant NM_014028.3(OSTM1):c.-52G>T 886060974 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108395907 108395907 C A 301041 single nucleotide variant NM_014028.3(OSTM1):c.*3329A>G 112424495 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108362660 108362660 T C 301041 single nucleotide variant NM_014028.3(OSTM1):c.*3329A>G 112424495 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108041456 108041456 T C 301043 single nucleotide variant NM_014028.3(OSTM1):c.*3319T>G 112919802 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108362670 108362670 A C 301043 single nucleotide variant NM_014028.3(OSTM1):c.*3319T>G 112919802 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108041466 108041466 A C 301045 single nucleotide variant NM_014028.3(OSTM1):c.*2990T>C 376154345 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108041795 108041795 A G 301045 single nucleotide variant NM_014028.3(OSTM1):c.*2990T>C 376154345 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108362999 108362999 A G 301047 single nucleotide variant NM_014028.3(OSTM1):c.*2887G>A 41287526 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363102 108363102 C T 301047 single nucleotide variant NM_014028.3(OSTM1):c.*2887G>A 41287526 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108041898 108041898 C T 301050 single nucleotide variant NM_014028.3(OSTM1):c.*2547G>A 111332944 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042238 108042238 C T 301050 single nucleotide variant NM_014028.3(OSTM1):c.*2547G>A 111332944 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363442 108363442 C T 301051 duplication NM_014028.3(OSTM1):c.*2370dupA 764343945 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042415 108042415 T TT 301051 duplication NM_014028.3(OSTM1):c.*2370dupA 764343945 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363619 108363619 T TT 301052 single nucleotide variant NM_014028.3(OSTM1):c.*2364A>G 60621815 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042421 108042421 T C 301052 single nucleotide variant NM_014028.3(OSTM1):c.*2364A>G 60621815 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363625 108363625 T C 301053 deletion NM_014028.3(OSTM1):c.*2351delC 886060962 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042434 108042434 G - 301053 deletion NM_014028.3(OSTM1):c.*2351delC 886060962 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363638 108363638 G - 301054 single nucleotide variant NM_014028.3(OSTM1):c.*2277G>A 778098156 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363712 108363712 C T 301054 single nucleotide variant NM_014028.3(OSTM1):c.*2277G>A 778098156 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042508 108042508 C T 301056 single nucleotide variant NM_014028.3(OSTM1):c.*1883T>C 7662 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042902 108042902 A G 301056 single nucleotide variant NM_014028.3(OSTM1):c.*1883T>C 7662 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364106 108364106 A G 301059 deletion NM_014028.3(OSTM1):c.*1441delA 140320992 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043344 108043344 T - 301059 deletion NM_014028.3(OSTM1):c.*1441delA 140320992 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364548 108364548 T - 301061 single nucleotide variant NM_014028.3(OSTM1):c.*1367G>A 73504439 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043418 108043418 C T 301061 single nucleotide variant NM_014028.3(OSTM1):c.*1367G>A 73504439 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364622 108364622 C T 301076 single nucleotide variant NM_014028.3(OSTM1):c.*1205C>G 145514255 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043580 108043580 G C 301076 single nucleotide variant NM_014028.3(OSTM1):c.*1205C>G 145514255 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364784 108364784 G C 301078 single nucleotide variant NM_014028.3(OSTM1):c.*1038A>G 1064346 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043747 108043747 T C 301078 single nucleotide variant NM_014028.3(OSTM1):c.*1038A>G 1064346 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364951 108364951 T C 301085 single nucleotide variant NM_014028.3(OSTM1):c.*1023A>G 886060967 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043762 108043762 T C 301085 single nucleotide variant NM_014028.3(OSTM1):c.*1023A>G 886060967 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364966 108364966 T C 301086 single nucleotide variant NM_014028.3(OSTM1):c.*778T>G 756978751 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365211 108365211 A C 301086 single nucleotide variant NM_014028.3(OSTM1):c.*778T>G 756978751 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044007 108044007 A C 301093 single nucleotide variant NM_014028.3(OSTM1):c.*355A>G 61491262 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365634 108365634 T C 301093 single nucleotide variant NM_014028.3(OSTM1):c.*355A>G 61491262 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044430 108044430 T C 301095 single nucleotide variant NM_014028.3(OSTM1):c.*291A>G 886060970 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365698 108365698 T C 301095 single nucleotide variant NM_014028.3(OSTM1):c.*291A>G 886060970 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044494 108044494 T C 301096 single nucleotide variant NM_014028.3(OSTM1):c.*212A>G 17069239 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044573 108044573 T C 301096 single nucleotide variant NM_014028.3(OSTM1):c.*212A>G 17069239 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365777 108365777 T C 301105 single nucleotide variant NM_014028.3(OSTM1):c.*168T>G 571193624 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044617 108044617 A C 301105 single nucleotide variant NM_014028.3(OSTM1):c.*168T>G 571193624 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365821 108365821 A C 301117 single nucleotide variant NM_014028.3(OSTM1):c.784-10C>G 753191662 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108049428 108049428 G C 301117 single nucleotide variant NM_014028.3(OSTM1):c.784-10C>G 753191662 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108370632 108370632 G C 301120 single nucleotide variant NM_014028.3(OSTM1):c.67C>T (p.Leu23=) 886060973 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108074585 108074585 G A 301120 single nucleotide variant NM_014028.3(OSTM1):c.67C>T (p.Leu23=) 886060973 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108395789 108395789 G A 301121 single nucleotide variant NM_014028.3(OSTM1):c.-67G>T 532210400 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108395922 108395922 C A 301121 single nucleotide variant NM_014028.3(OSTM1):c.-67G>T 532210400 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108074718 108074718 C A 305472 deletion NM_014028.3(OSTM1):c.*2488delT 879213270 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042297 108042297 A - 305472 deletion NM_014028.3(OSTM1):c.*2488delT 879213270 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363501 108363501 A - 305473 single nucleotide variant NM_014028.3(OSTM1):c.*2301A>G 9386700 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042484 108042484 T C 305473 single nucleotide variant NM_014028.3(OSTM1):c.*2301A>G 9386700 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363688 108363688 T C 305488 single nucleotide variant NM_014028.3(OSTM1):c.*2138G>T 115370044 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042647 108042647 C A 305488 single nucleotide variant NM_014028.3(OSTM1):c.*2138G>T 115370044 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363851 108363851 C A 305489 single nucleotide variant NM_014028.3(OSTM1):c.*2035A>G 548119179 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042750 108042750 T C 305489 single nucleotide variant NM_014028.3(OSTM1):c.*2035A>G 548119179 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363954 108363954 T C 305495 duplication NM_014028.3(OSTM1):c.*1932dupT 886060963 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042853 108042853 A AA 305495 duplication NM_014028.3(OSTM1):c.*1932dupT 886060963 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364057 108364057 A AA 305510 single nucleotide variant NM_014028.3(OSTM1):c.*1469G>A 886060965 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043316 108043316 C T 305510 single nucleotide variant NM_014028.3(OSTM1):c.*1469G>A 886060965 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364520 108364520 C T 305517 single nucleotide variant NM_014028.3(OSTM1):c.*1427A>G 116796449 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043358 108043358 T C 305517 single nucleotide variant NM_014028.3(OSTM1):c.*1427A>G 116796449 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364562 108364562 T C 305520 single nucleotide variant NM_014028.3(OSTM1):c.*1407A>G 12567 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043378 108043378 T C 305520 single nucleotide variant NM_014028.3(OSTM1):c.*1407A>G 12567 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364582 108364582 T C 305521 single nucleotide variant NM_014028.3(OSTM1):c.*1399T>A 886060966 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043386 108043386 A T 305521 single nucleotide variant NM_014028.3(OSTM1):c.*1399T>A 886060966 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364590 108364590 A T 305525 single nucleotide variant NM_014028.3(OSTM1):c.*953C>T 886060968 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365036 108365036 G A 305525 single nucleotide variant NM_014028.3(OSTM1):c.*953C>T 886060968 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043832 108043832 G A 305528 single nucleotide variant NM_014028.3(OSTM1):c.*873A>G 886060969 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365116 108365116 T C 305528 single nucleotide variant NM_014028.3(OSTM1):c.*873A>G 886060969 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043912 108043912 T C 305529 single nucleotide variant NM_014028.3(OSTM1):c.*177A>G 886060971 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044608 108044608 T C 305529 single nucleotide variant NM_014028.3(OSTM1):c.*177A>G 886060971 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365812 108365812 T C 305531 single nucleotide variant NM_014028.3(OSTM1):c.*147G>T 117394334 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044638 108044638 C A 305531 single nucleotide variant NM_014028.3(OSTM1):c.*147G>T 117394334 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365842 108365842 C A 305533 single nucleotide variant NM_014028.3(OSTM1):c.300G>T (p.Gly100=) 199570880 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108074352 108074352 C A 305533 single nucleotide variant NM_014028.3(OSTM1):c.300G>T (p.Gly100=) 199570880 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108395556 108395556 C A 305596 single nucleotide variant NM_014028.3(OSTM1):c.*3192A>C 185905869 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108362797 108362797 T G 305596 single nucleotide variant NM_014028.3(OSTM1):c.*3192A>C 185905869 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108041593 108041593 T G 305597 single nucleotide variant NM_014028.3(OSTM1):c.*2755A>G 6921341 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042030 108042030 T C 305597 single nucleotide variant NM_014028.3(OSTM1):c.*2755A>G 6921341 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363234 108363234 T C 305598 single nucleotide variant NM_014028.3(OSTM1):c.*2344C>G 113263335 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042441 108042441 G C 305598 single nucleotide variant NM_014028.3(OSTM1):c.*2344C>G 113263335 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363645 108363645 G C 305604 single nucleotide variant NM_014028.3(OSTM1):c.*2283T>C 112283202 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042502 108042502 A G 305604 single nucleotide variant NM_014028.3(OSTM1):c.*2283T>C 112283202 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363706 108363706 A G 305620 single nucleotide variant NM_014028.3(OSTM1):c.*2145A>T 147517615 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042640 108042640 T A 305620 single nucleotide variant NM_014028.3(OSTM1):c.*2145A>T 147517615 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363844 108363844 T A 305622 single nucleotide variant NM_014028.3(OSTM1):c.*2053C>T 17069215 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108363936 108363936 G A 305622 single nucleotide variant NM_014028.3(OSTM1):c.*2053C>T 17069215 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108042732 108042732 G A 305628 single nucleotide variant NM_014028.3(OSTM1):c.*1634A>G 886060964 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043151 108043151 T C 305628 single nucleotide variant NM_014028.3(OSTM1):c.*1634A>G 886060964 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364355 108364355 T C 305629 single nucleotide variant NM_014028.3(OSTM1):c.*1352A>G 9372179 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043433 108043433 T C 305629 single nucleotide variant NM_014028.3(OSTM1):c.*1352A>G 9372179 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364637 108364637 T C 305631 single nucleotide variant NM_014028.3(OSTM1):c.*1161G>A 17069228 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108043624 108043624 C T 305631 single nucleotide variant NM_014028.3(OSTM1):c.*1161G>A 17069228 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108364828 108364828 C T 305637 single nucleotide variant NM_014028.3(OSTM1):c.*331A>G 9320250 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108365658 108365658 T C 305637 single nucleotide variant NM_014028.3(OSTM1):c.*331A>G 9320250 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044454 108044454 T C 305638 single nucleotide variant NM_014028.3(OSTM1):c.950-12T>C 886060972 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108044852 108044852 A G 305638 single nucleotide variant NM_014028.3(OSTM1):c.950-12T>C 886060972 Human Phenotype Ontology:HP:0011002,MedGen:CN116734 6 108366056 108366056 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 6 108364951 rs1064346 T C rs1064346 1.28E-06 Post-operative nausea and vomiting HPOID:0002017 NA A UTR-3 GWASdb_trait 6 108381347 rs9374013 G A rs9374013 1.32E-07 Post-operative nausea and vomiting HPOID:0002017 NA G intron GWASdb_trait 6 108382401 rs916395 G A rs916395 1.36E-04 Statin-induced myopathy HPOID:0001637 DOID:0080000 C,T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000081087.14 OSTM1 607649