Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 19430 duplication NM_031483.6(ITCH):c.394dupA (p.Ile132Asnfs) 587776592 MedGen:C3150649,OMIM:613385,Orphanet:ORPHA228426 20 33001604 33001604 A AA 19430 duplication NM_031483.6(ITCH):c.394dupA (p.Ile132Asnfs) 587776592 MedGen:C3150649,OMIM:613385,Orphanet:ORPHA228426 20 34413798 34413798 A AA 215585 single nucleotide variant NM_001257137.2(ITCH):c.476A>T (p.Asn159Ile) 864309573 MedGen:CN169374 20 33004923 33004923 A T 215585 single nucleotide variant NM_001257137.2(ITCH):c.476A>T (p.Asn159Ile) 864309573 MedGen:CN169374 20 34417117 34417117 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 20 32952125 rs12624640 G A rs12624640 4.44E-08 Protein C levels HPOID:0003256 DOID:3756 G intron GWASdb_trait 20 32952125 rs12624640 G A rs12624640 3.83E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 20 32996101 rs4911154 G A rs4911154 3.62E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 20 33020446 rs6088498 A G rs6088498 2.70E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 20 33022797 rs17303568 A G rs17303568 2.57E-83 Protein C levels HPOID:0003256 DOID:3756 A intron GWASdb_trait 20 33025567 rs10485505 C T rs10485505 1.03E-79 Protein C levels HPOID:0003256 DOID:3756 C intron GWASdb_trait 20 33037408 rs7266300 A T rs7266300 9.44E-83 Protein C levels HPOID:0003256 DOID:3756 A intron GWASdb_trait 20 33046761 rs11700080 A G rs11700080 2.18E-12 Protein C levels HPOID:0003256 DOID:3756 A intron GWASdb_trait 20 33046761 rs11700080 A G rs11700080 2.49E-05 Cardiovascular disease HPOID:0001626 DOID:1287 A intron GWASdb_trait 20 33075810 rs6059866 T G rs6059866 4.85E-11 Narcolepsy HPOID:0100786 DOID:8986 T intron GWASdb_trait 20 33081906 rs6120663 C A rs6120663 6.46E-10 Protein C levels HPOID:0003256 DOID:3756 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000078747.13 ITCH 606409