Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 17558 single nucleotide variant NM_015265.3(SATB2):c.715C>T (p.Arg239Ter) 137853127 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019;MedGen:CN221809 2 200213882 200213882 G A 17558 single nucleotide variant NM_015265.3(SATB2):c.715C>T (p.Arg239Ter) 137853127 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019;MedGen:CN221809 2 199349159 199349159 G A 73410 copy number loss GRCh38/hg38 2q33.1(chr2:199358712-199453058)x1 -1 - 2 200223435 200317781 na na 73410 copy number loss GRCh38/hg38 2q33.1(chr2:199358712-199453058)x1 -1 - 2 199358712 199453058 na na 73410 copy number loss GRCh38/hg38 2q33.1(chr2:199358712-199453058)x1 -1 - 2 199931680 200026026 na na 73756 copy number gain GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3 -1 - 2 200143328 200237265 na na 73756 copy number gain GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3 -1 - 2 199278605 199372542 na na 73756 copy number gain GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3 -1 - 2 199851573 199945510 na na 73757 copy number gain GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3 -1 - 2 200174658 200268525 na na 73757 copy number gain GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3 -1 - 2 199309935 199403802 na na 73757 copy number gain GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3 -1 - 2 199882903 199976770 na na 164814 copy number loss GRCh38/hg38 2q33.1(chr2:199374155-199381595)x1 -1 - 2 200238878 200246318 na na 164814 copy number loss GRCh38/hg38 2q33.1(chr2:199374155-199381595)x1 -1 - 2 199374155 199381595 na na 164814 copy number loss GRCh38/hg38 2q33.1(chr2:199374155-199381595)x1 -1 - 2 199947123 199954563 na na 205228 single nucleotide variant NM_015265.3(SATB2):c.847C>T (p.Arg283Ter) 797044874 MeSH:D030342,MedGen:C0950123;MedGen:CN221809 2 200213750 200213750 G A 205228 single nucleotide variant NM_015265.3(SATB2):c.847C>T (p.Arg283Ter) 797044874 MeSH:D030342,MedGen:C0950123;MedGen:CN221809 2 199349027 199349027 G A 213534 single nucleotide variant NM_015265.3(SATB2):c.1169C>T (p.Thr390Ile) 863224917 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 200213428 200213428 G A 213534 single nucleotide variant NM_015265.3(SATB2):c.1169C>T (p.Thr390Ile) 863224917 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 199348705 199348705 G A 213969 duplication NG_016976.1:g.(77205_77207)_(112216_112218)dup -1 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 199364049 199399062 na na 213969 duplication NG_016976.1:g.(77205_77207)_(112216_112218)dup -1 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 200228772 200263785 na na 214752 duplication NM_001172509.1(SATB2):c.170_346dup177 -1 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 199391823 199446462 na na 214752 duplication NM_001172509.1(SATB2):c.170_346dup177 -1 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 200298061 200298237 na na 225861 deletion NM_015265.3(SATB2):c.1131_1132delGT (p.Ser378Profs) 875989830 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 200213465 200213466 AC - 225861 deletion NM_015265.3(SATB2):c.1131_1132delGT (p.Ser378Profs) 875989830 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 199348742 199348743 AC - 237528 single nucleotide variant NM_015265.3(SATB2):c.1495A>T (p.Lys499Ter) 878853163 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 200188573 200188573 T A 237528 single nucleotide variant NM_015265.3(SATB2):c.1495A>T (p.Lys499Ter) 878853163 Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019 2 199323850 199323850 T A 259716 deletion NM_015265.3(SATB2):c.1515delT (p.Phe505Leufs) 886039740 MedGen:CN221809 2 200188553 200188553 A - 259716 deletion NM_015265.3(SATB2):c.1515delT (p.Phe505Leufs) 886039740 MedGen:CN221809 2 199323830 199323830 A - 264070 single nucleotide variant NM_015265.3(SATB2):c.1285C>T (p.Arg429Ter) 886041847 MedGen:CN221809 2 200193522 200193522 G A 264070 single nucleotide variant NM_015265.3(SATB2):c.1285C>T (p.Arg429Ter) 886041847 MedGen:CN221809 2 199328799 199328799 G A 264084 deletion NM_015265.3(SATB2):c.83delC (p.Pro28Glnfs) 886041685 MedGen:CN221809 2 200320678 200320678 G - 264084 deletion NM_015265.3(SATB2):c.83delC (p.Pro28Glnfs) 886041685 MedGen:CN221809 2 199455955 199455955 G - 264091 single nucleotide variant NM_015265.3(SATB2):c.1286G>A (p.Arg429Gln) 886041516 MedGen:CN221809 2 200193521 200193521 C T 264091 single nucleotide variant NM_015265.3(SATB2):c.1286G>A (p.Arg429Gln) 886041516 MedGen:CN221809 2 199328798 199328798 C T 359337 deletion NM_015265.3(SATB2):c.1942_1943delCT (p.Leu648Phefs) 1057518614 MedGen:CN221809 2 199272470 199272471 AG - 359337 deletion NM_015265.3(SATB2):c.1942_1943delCT (p.Leu648Phefs) 1057518614 MedGen:CN221809 2 200137193 200137194 AG - 359408 single nucleotide variant NM_015265.3(SATB2):c.1196G>A (p.Arg399His) 1057518190 MedGen:CN221809 2 199328888 199328888 C T 359408 single nucleotide variant NM_015265.3(SATB2):c.1196G>A (p.Arg399His) 1057518190 MedGen:CN221809 2 200193611 200193611 C T 359455 single nucleotide variant NM_015265.3(SATB2):c.868C>T (p.Gln290Ter) 1057518496 MedGen:CN221809 2 199349006 199349006 G A 359455 single nucleotide variant NM_015265.3(SATB2):c.868C>T (p.Gln290Ter) 1057518496 MedGen:CN221809 2 200213729 200213729 G A 361121 single nucleotide variant NM_001172517.1(SATB2):c.1198A>G (p.Lys400Glu) 1057519013 MedGen:CN228659 2 200193609 200193609 T C 361121 single nucleotide variant NM_001172517.1(SATB2):c.1198A>G (p.Lys400Glu) 1057519013 MedGen:CN228659 2 199328886 199328886 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 2 200313323 rs6752494 T C rs6752494 2.50E-05 IRON TFR2 PROTEIN, HUMAN|RECEPTORS, TRANSFERRIN Iron levels HPOID:0011031 DOID:2351 T intron GWASdb_drug 2 200137608 rs2881208 T C rs2881208 7.77E-05 Major depressive disorder HPOID:0000716 DOID:1470 T intron GWASdb_trait 2 200137608 rs2881208 T C rs2881208 2.83E-05 Response to radiotherapy in cancer (late toxicity) HPOID:0002664 DOID:162 T intron GWASdb_trait 2 200137608 rs2881208 T C rs2881208 3.22E-04 Response to radiotherapy in cancer (late toxicity) HPOID:0002664 DOID:162 T intron GWASdb_trait 2 200137608 rs2881208 T C rs2881208 7.01E-05 Response to radiotherapy in cancer (late toxicity) HPOID:0002664 DOID:162 T intron GWASdb_trait 2 200137608 rs2881208 T C rs2881208 7.68E-05 Response to radiotherapy in cancer (late toxicity) HPOID:0002664 DOID:162 T intron GWASdb_trait 2 200190213 rs2166517 T C rs2166517 9.22E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 2 200198964 rs13426349 C T rs13426349 9.55E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 2 200214273 rs3828186 T C rs3828186 4.30E-06 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 2 200236425 rs1348812 G A rs1348812 8.02E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 2 200273376 rs4673339 A G rs4673339 1.64E-05 Blood Pressure HPOID:0011025 DOID:10763 A intron GWASdb_trait 2 200290359 rs1992950 A G rs1992950 5.00E-06 Ulcerative colitis HPOID:0100279 DOID:8577 A intron GWASdb_trait 2 200313323 rs6752494 T C rs6752494 2.50E-05 Iron levels HPOID:0011031 DOID:2351 T 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 rs3828186 2 200214273 200214273 intronic 0.640286 0.193625994020308

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000119042.16 SATB2 608148