Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 157660 copy number gain GRCh38/hg38 3q26.32(chr3:176992658-177191602)x3 -1 - 3 176710446 176909390 na na 157660 copy number gain GRCh38/hg38 3q26.32(chr3:176992658-177191602)x3 -1 - 3 176992658 177191602 na na 157660 copy number gain GRCh38/hg38 3q26.32(chr3:176992658-177191602)x3 -1 - 3 178193140 178392084 na na 189176 single nucleotide variant NM_024665.5(TBL1XR1):c.209G>A (p.Gly70Asp) 786205859 MedGen:C0795942,OMIM:270710,OMIM:616944,Orphanet:ORPHA2823 3 176769510 176769510 C T 189176 single nucleotide variant NM_024665.5(TBL1XR1):c.209G>A (p.Gly70Asp) 786205859 MedGen:C0795942,OMIM:270710,OMIM:616944,Orphanet:ORPHA2823 3 177051722 177051722 C T 227684 undetermined variant TBL1XR1, LEU282PRO -1 MedGen:C0795942,OMIM:270710,OMIM:616944,Orphanet:ORPHA2823 na -1 -1 na na 227685 undetermined variant I397SFSTER19 -1 MedGen:C0795942,OMIM:270710,OMIM:616944,Orphanet:ORPHA2823 na -1 -1 na na 227686 single nucleotide variant NM_024665.5(TBL1XR1):c.734A>G (p.Tyr245Cys) 878854401 MedGen:C0795942,OMIM:270710,OMIM:616944,Orphanet:ORPHA2823 3 176765306 176765306 T C 227686 single nucleotide variant NM_024665.5(TBL1XR1):c.734A>G (p.Tyr245Cys) 878854401 MedGen:C0795942,OMIM:270710,OMIM:616944,Orphanet:ORPHA2823 3 177047518 177047518 T C 227687 single nucleotide variant NM_024665.5(TBL1XR1):c.1337A>G (p.Tyr446Cys) 878854402 MedGen:C1865644,OMIM:602342 3 177033050 177033050 T C 227687 single nucleotide variant NM_024665.5(TBL1XR1):c.1337A>G (p.Tyr446Cys) 878854402 MedGen:C1865644,OMIM:602342 3 176750838 176750838 T C 246941 single nucleotide variant NM_024665.5(TBL1XR1):c.86G>A (p.Gly29Asp) 879255421 MedGen:CN169374 3 176771679 176771679 C T 246941 single nucleotide variant NM_024665.5(TBL1XR1):c.86G>A (p.Gly29Asp) 879255421 MedGen:CN169374 3 177053891 177053891 C T 263808 copy number gain NC_000003.11:g.(?_176895307)_(177090616_?)dup -1 MedGen:CN221809 3 176895307 177090616 na na 359406 single nucleotide variant NM_024665.5(TBL1XR1):c.1108G>A (p.Asp370Asn) 1057517933 MedGen:CN221809 3 177038112 177038112 C T 359406 single nucleotide variant NM_024665.5(TBL1XR1):c.1108G>A (p.Asp370Asn) 1057517933 MedGen:CN221809 3 176755900 176755900 C T 359458 single nucleotide variant NM_024665.5(TBL1XR1):c.248T>A (p.Leu83Gln) 1057518063 MedGen:CN221809 3 177051683 177051683 A T 359458 single nucleotide variant NM_024665.5(TBL1XR1):c.248T>A (p.Leu83Gln) 1057518063 MedGen:CN221809 3 176769471 176769471 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 3 176778098 rs6768711 G A rs6768711 3.63E-05 Schizophrenia HPOID:0100753 DOID:5419 G intron GWASdb_trait 3 176807314 rs1201284 G A rs1201284 1.76E-05 Alcohol dependence HPOID:0000707 DOID:0050741 C intron GWASdb_trait 3 176820705 rs1201292 A G rs1201292 3.80E-05 Lung cancer HPOID:0100526 DOID:1324 C intron GWASdb_trait 3 176827927 rs1209035 T C rs1209035 3.96E-05 Alcohol dependence HPOID:0000707 DOID:0050741 T intron GWASdb_trait 3 176830302 rs1201296 G A rs1201296 2.40E-05 Lung cancer HPOID:0100526 DOID:1324 T intron GWASdb_trait 3 176837749 rs1950081 G A rs1950081 2.90E-05 Lung cancer HPOID:0100526 DOID:1324 G intron GWASdb_trait 3 176842475 rs2141599 T C rs2141599 3.41E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 3 176859444 rs7426456 C T rs7426456 6.02E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 3 176868053 rs7632766 T C rs7632766 9.73E-04 Alcohol dependence HPOID:0000707 DOID:0050741 T intron GWASdb_trait 3 176869498 rs6443429 A C rs6443429 2.52E-04 Longevity HPOID:0000118 NA C intron GWASdb_trait 3 176894837 rs7426956 C T rs7426956 6.61E-11 Narcolepsy HPOID:0100786 DOID:8986 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000177565.16 TBL1XR1 608628