Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 205216 single nucleotide variant NM_002074.4(GNB1):c.239T>C (p.Ile80Thr) 752746786 MedGen:C0008925,Orphanet:ORPHA2014;Human Phenotype Ontology:HP:0002376,MedGen:C1836830;MedGen:C0393593;Human Phenotype Ontology:HP:0011198,MedGen:CN166927;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001510,MedGen:CN001379;Human Phenotype Ontology:HP:0000821,MedGen:C2750951;Human Phenotype Ontology:HP:0002540,MedGen:C0560046;MeSH:D030342,MedGen:C0950123;Human Phenotype Ontology:HP:0009062,MedGen:C1970931;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;Human Phenotype Ontology:HP:0002509,MedGen:C1838391;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0010841,MedGen:CN116575;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;MedGen:C0026986,OMIM:614286;Human Phenotype Ontology:HP:0000639,MedGen:C1963184;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0000486,MedGen:C0038379;Human Phenotype Ontology:HP:0200 1 1737942 1737942 A G 205216 single nucleotide variant NM_002074.4(GNB1):c.239T>C (p.Ile80Thr) 752746786 MedGen:C0008925,Orphanet:ORPHA2014;Human Phenotype Ontology:HP:0002376,MedGen:C1836830;MedGen:C0393593;Human Phenotype Ontology:HP:0011198,MedGen:CN166927;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001510,MedGen:CN001379;Human Phenotype Ontology:HP:0000821,MedGen:C2750951;Human Phenotype Ontology:HP:0002540,MedGen:C0560046;MeSH:D030342,MedGen:C0950123;Human Phenotype Ontology:HP:0009062,MedGen:C1970931;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;Human Phenotype Ontology:HP:0002509,MedGen:C1838391;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0010841,MedGen:CN116575;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;MedGen:C0026986,OMIM:614286;Human Phenotype Ontology:HP:0000639,MedGen:C1963184;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0000486,MedGen:C0038379;Human Phenotype Ontology:HP:0200 1 1806503 1806503 A G 226495 single nucleotide variant NM_002074.4(GNB1):c.976G>A (p.Ala326Thr) 869312826 Human Phenotype Ontology:HP:0002069,MedGen:CN001871;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 1 1718817 1718817 C T 226495 single nucleotide variant NM_002074.4(GNB1):c.976G>A (p.Ala326Thr) 869312826 Human Phenotype Ontology:HP:0002069,MedGen:CN001871;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 1 1787378 1787378 C T 226496 single nucleotide variant NM_002074.4(GNB1):c.301A>G (p.Met101Val) 869312825 Human Phenotype Ontology:HP:0002376,MedGen:C1836830;Human Phenotype Ontology:HP:0011198,MedGen:CN166927;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0002384,MedGen:CN002165;Human Phenotype Ontology:HP:0002069,MedGen:CN001871;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0010841,MedGen:CN116575;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 1 1735987 1735987 T C 226496 single nucleotide variant NM_002074.4(GNB1):c.301A>G (p.Met101Val) 869312825 Human Phenotype Ontology:HP:0002376,MedGen:C1836830;Human Phenotype Ontology:HP:0011198,MedGen:CN166927;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0002384,MedGen:CN002165;Human Phenotype Ontology:HP:0002069,MedGen:CN001871;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0010841,MedGen:CN116575;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 1 1804548 1804548 T C 226497 single nucleotide variant NM_002074.4(GNB1):c.284T>C (p.Leu95Pro) 869312824 Human Phenotype Ontology:HP:0100704,MedGen:CN117595;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001510,MedGen:CN001379;Human Phenotype Ontology:HP:0002540,MedGen:C0560046;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;Human Phenotype Ontology:HP:0002509,MedGen:C1838391;Human Phenotype Ontology:HP:0010841,MedGen:CN116575;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0000639,MedGen:C1963184;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0000486,MedGen:C0038379 1 1736004 1736004 A G 226497 single nucleotide variant NM_002074.4(GNB1):c.284T>C (p.Leu95Pro) 869312824 Human Phenotype Ontology:HP:0100704,MedGen:CN117595;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001510,MedGen:CN001379;Human Phenotype Ontology:HP:0002540,MedGen:C0560046;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;Human Phenotype Ontology:HP:0002509,MedGen:C1838391;Human Phenotype Ontology:HP:0010841,MedGen:CN116575;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0000639,MedGen:C1963184;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0000486,MedGen:C0038379 1 1804565 1804565 A G 226498 single nucleotide variant NM_002074.4(GNB1):c.239T>A (p.Ile80Asn) 752746786 Gene:100310785,MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED CT:C0023449;Human Phenotype Ontology:HP:0100704,MedGen:CN117595;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0002384,MedGen:CN002165;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001510,MedGen:CN001379;Human Phenotype Ontology:HP:0008947,MedGen:CN007871;Human Phenotype Ontology:HP:0002509,MedGen:C1838391;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0010841,MedGen:CN116575;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 1 1737942 1737942 A T 226498 single nucleotide variant NM_002074.4(GNB1):c.239T>A (p.Ile80Asn) 752746786 Gene:100310785,MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED CT:C0023449;Human Phenotype Ontology:HP:0100704,MedGen:CN117595;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0002384,MedGen:CN002165;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001510,MedGen:CN001379;Human Phenotype Ontology:HP:0008947,MedGen:CN007871;Human Phenotype Ontology:HP:0002509,MedGen:C1838391;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0010841,MedGen:CN116575;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 1 1806503 1806503 A T 226499 single nucleotide variant NM_002074.4(GNB1):c.233A>G (p.Lys78Arg) 869312823 Human Phenotype Ontology:HP:0011198,MedGen:CN166927;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001510,MedGen:CN001379;Human Phenotype Ontology:HP:0008947,MedGen:CN007871;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0000486,MedGen:C0038379 1 1806509 1806509 T C 226499 single nucleotide variant NM_002074.4(GNB1):c.233A>G (p.Lys78Arg) 869312823 Human Phenotype Ontology:HP:0011198,MedGen:CN166927;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001510,MedGen:CN001379;Human Phenotype Ontology:HP:0008947,MedGen:CN007871;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0000486,MedGen:C0038379 1 1737948 1737948 T C 226500 single nucleotide variant NM_002074.4(GNB1):c.229G>A (p.Gly77Ser) 758432471 Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001252,MedGen:CN001147 1 1737952 1737952 C T 226500 single nucleotide variant NM_002074.4(GNB1):c.229G>A (p.Gly77Ser) 758432471 Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001252,MedGen:CN001147 1 1806513 1806513 C T 226501 single nucleotide variant NM_002074.4(GNB1):c.228T>G (p.Asp76Glu) 869312822 Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0002384,MedGen:CN002165;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0002509,MedGen:C1838391;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0000486,MedGen:C0038379 1 1737953 1737953 A C 226501 single nucleotide variant NM_002074.4(GNB1):c.228T>G (p.Asp76Glu) 869312822 Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0002384,MedGen:CN002165;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0002509,MedGen:C1838391;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0000486,MedGen:C0038379 1 1806514 1806514 A C 226502 single nucleotide variant NM_002074.4(GNB1):c.227A>G (p.Asp76Gly) 869312821 Gene:100310785,MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED CT:C0023449;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0008947,MedGen:CN007871;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0001252,MedGen:CN001147 1 1806515 1806515 T C 226502 single nucleotide variant NM_002074.4(GNB1):c.227A>G (p.Asp76Gly) 869312821 Gene:100310785,MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED CT:C0023449;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0008947,MedGen:CN007871;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;MedGen:CN236792,OMIM:616973;Human Phenotype Ontology:HP:0001252,MedGen:CN001147 1 1737954 1737954 T C

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 1 1759026 rs9786963 T C rs9786963 3.01E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 1 1793111 rs10907192 A G rs10907192 7.59E-05 Cognitive performance HPOID:0100543 DOID:1561 G intron GWASdb_trait 1 1793786 rs7511905 A C rs7511905 1.64E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 1 1804302 rs3855951 C T rs3855951 1.55E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 1 1810090 rs7525092 C T rs7525092 9.86E-05 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 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 rs6681938 1 1781220 1781220 intronic 0.31443 0.502476024296459 GWAS of prostate cancer rs7525092 1 1810090 1810090 intronic 0.058986 1.22925105351432 GWAS of prostate cancer rs4648592 1 1801034 1801034 intronic 0.053387 1.272564482964

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000078369.17 GNB1 139380