Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 94325 single nucleotide variant NM_145064.2(STAC3):c.851G>C (p.Trp284Ser) 140291094 MedGen:C1850625,OMIM:255995,Orphanet:ORPHA168572 12 57638105 57638105 C G 94325 single nucleotide variant NM_145064.2(STAC3):c.851G>C (p.Trp284Ser) 140291094 MedGen:C1850625,OMIM:255995,Orphanet:ORPHA168572 12 57244322 57244322 C G 254637 single nucleotide variant NM_145064.2(STAC3):c.*2C>T 3204635 MedGen:CN169374 12 57243810 57243810 G A 254637 single nucleotide variant NM_145064.2(STAC3):c.*2C>T 3204635 MedGen:CN169374 12 57637593 57637593 G A 254638 single nucleotide variant NM_145064.2(STAC3):c.1086G>A (p.Glu362=) 61739642 MedGen:CN169374 12 57243821 57243821 C T 254638 single nucleotide variant NM_145064.2(STAC3):c.1086G>A (p.Glu362=) 61739642 MedGen:CN169374 12 57637604 57637604 C T 254639 single nucleotide variant NM_145064.2(STAC3):c.1023G>C (p.Ala341=) 61747067 MedGen:CN169374 12 57637667 57637667 C G 254639 single nucleotide variant NM_145064.2(STAC3):c.1023G>C (p.Ala341=) 61747067 MedGen:CN169374 12 57243884 57243884 C G 254640 single nucleotide variant NM_145064.2(STAC3):c.996+17A>T 150268069 MedGen:CN169374 12 57244071 57244071 T A 254640 single nucleotide variant NM_145064.2(STAC3):c.996+17A>T 150268069 MedGen:CN169374 12 57637854 57637854 T A 254641 single nucleotide variant NM_145064.2(STAC3):c.842A>G (p.Asn281Ser) 115276341 MedGen:CN169374 12 57638114 57638114 T C 254641 single nucleotide variant NM_145064.2(STAC3):c.842A>G (p.Asn281Ser) 115276341 MedGen:CN169374 12 57244331 57244331 T C 254642 single nucleotide variant NM_145064.2(STAC3):c.604-8C>T 76823783 MedGen:CN169374 12 57639002 57639002 G A 254642 single nucleotide variant NM_145064.2(STAC3):c.604-8C>T 76823783 MedGen:CN169374 12 57245219 57245219 G A 254643 single nucleotide variant NM_145064.2(STAC3):c.570G>A (p.Lys190=) 76667525 MedGen:CN169374 12 57246837 57246837 C T 254643 single nucleotide variant NM_145064.2(STAC3):c.570G>A (p.Lys190=) 76667525 MedGen:CN169374 12 57640620 57640620 C T 254644 single nucleotide variant NM_145064.2(STAC3):c.432+15G>A 886038730 MedGen:CN169374 12 57642474 57642474 C T 254644 single nucleotide variant NM_145064.2(STAC3):c.432+15G>A 886038730 MedGen:CN169374 12 57248691 57248691 C T 254645 single nucleotide variant NM_145064.2(STAC3):c.355C>T (p.Arg119Cys) 146313451 MedGen:CN169374 12 57248783 57248783 G A 254645 single nucleotide variant NM_145064.2(STAC3):c.355C>T (p.Arg119Cys) 146313451 MedGen:CN169374 12 57642566 57642566 G A 254646 single nucleotide variant NM_145064.2(STAC3):c.258C>T (p.Asn86=) 148939626 MedGen:CN169374 12 57249117 57249117 G A 254646 single nucleotide variant NM_145064.2(STAC3):c.258C>T (p.Asn86=) 148939626 MedGen:CN169374 12 57642900 57642900 G A 254647 single nucleotide variant NM_145064.2(STAC3):c.-1G>A 139002404 MedGen:CN169374 12 57249637 57249637 C T 254647 single nucleotide variant NM_145064.2(STAC3):c.-1G>A 139002404 MedGen:CN169374 12 57643420 57643420 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 12 57637593 rs3204635 G A rs3204635 0.00000763 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 C UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000185482.7 STAC3 615521