Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 167330 deletion NC_000021.8:g.35027142_35056247del29106 -1 Human Phenotype Ontology:HP:0100602,MedGen:CN117494 21 35027142 35056247 na na 226981 single nucleotide variant NM_003024.2(ITSN1):c.2227G>T (p.Val743Leu) 755276554 MeSH:D030342,MedGen:C0950123 21 35172156 35172156 G T 226981 single nucleotide variant NM_003024.2(ITSN1):c.2227G>T (p.Val743Leu) 755276554 MeSH:D030342,MedGen:C0950123 21 33799852 33799852 G 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 21 35018470 rs8133982 A G rs8133982 3.04E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_drug 21 35226367 rs8127139 G A rs8127139 0.000759 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA A intron GWASdb_drug 21 35229419 rs2282469 T C rs2282469 0.0000382 LEUCOVORIN|FLUOROURACIL BIOMARKERS, PHARMACOLOGICAL|ORGANOPLATINUM COMPOUNDS Oxaliplatin induced diarrhea in response to colorectal cancer treatment HPOID:0100834 DOID:9256 T intron GWASdb_drug 21 35018470 rs8133982 A G rs8133982 3.04E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_trait 21 35056729 rs2834247 G A rs2834247 6.07E-04 Insulin resistance HPOID:0000855 DOID:9352 G intron GWASdb_trait 21 35085900 rs2834252 A G rs2834252 9.09E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 21 35085900 rs2834252 A G rs2834252 2.81E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 21 35124253 rs2834255 A G rs2834255 2.83E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 G intron GWASdb_trait 21 35186743 rs2254480 A G rs2254480 6.21E-04 Oral cancers (chewing tobacco related) HPOID:0012290 DOID:1749|DOID:403 A intron GWASdb_trait 21 35199880 rs2834268 A G rs2834268 9.92E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 21 35202591 rs2284568 G A rs2284568 8.04E-05 HIV-1 viral setpoint HPOID:0002721 DOID:526 G intron GWASdb_trait 21 35226367 rs8127139 G A rs8127139 0.000759 Salmonella-induced pyroptosis NA NA A intron GWASdb_trait 21 35229419 rs2282469 T C rs2282469 0.0000382 Oxaliplatin induced diarrhea in response to colorectal cancer treatment HPOID:0100834 DOID:9256 T intron GWASdb_trait 21 35236467 rs2268257 A G rs2268257 2.87E-04 Lung function (forced vital capacity) HPOID:0002088 DOID:850 A intron GWASdb_trait 21 35241880 rs9979150 G A rs9979150 1.26E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000205726.14 ITSN1 602442