Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 106714 single nucleotide variant NM_006277.2(ITSN2):c.4732G>T (p.Ala1578Ser) 483352731 MedGen:CN221809 2 24428113 24428113 C A 106714 single nucleotide variant NM_006277.2(ITSN2):c.4732G>T (p.Ala1578Ser) 483352731 MedGen:CN221809 2 24205244 24205244 C A

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 24431184 rs2303291 C T rs2303291 8.84E-05 Parkinson's disease HPOID:0001300 DOID:14330 C missense GWASdb_trait 2 24432839 rs2303296 A G rs2303296 2.64E-04 Parkinson's disease HPOID:0001300 DOID:14330 A cds-synon GWASdb_trait 2 24432937 rs2303297 C T rs2303297 2.64E-04 Parkinson's disease HPOID:0001300 DOID:14330 C intron GWASdb_trait 2 24434345 rs6746005 G A rs6746005 9.88E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 2 24440417 rs2551182 C T rs2551182 4.75E-05 Male-pattern baldness HPOID:0001596 DOID:987 C intron GWASdb_trait 2 24441883 rs6707781 T G rs6707781 8.41E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 2 24443271 rs2543662 C A rs2543662 2.96E-05 Parkinson's disease HPOID:0001300 DOID:14330 C UTR-3 GWASdb_trait 2 24443330 rs1203 A G rs1203 8.51E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A UTR-3 GWASdb_trait 2 24514996 rs10495747 T C rs10495747 3.78E-05 Male-pattern baldness HPOID:0001596 DOID:987 T intron GWASdb_trait 2 24521766 rs6707600 C T rs6707600 3.00E-06 Response to antipsychotic treatment in schizophrenia (working memory) HPOID:0100753 DOID:5419 T intron GWASdb_trait 2 24546542 rs2702042 C T rs2702042 5.76E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 2 24546542 rs2702042 C T rs2702042 7.28E-04 Multiple complex diseases HPOID:0000118 NA 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 rs7589373 2 24452180 24452180 intronic 0.815244 0.0887123888133029 GWAS of prostate cancer rs10495747 2 24514996 24514996 intronic 0.808615 0.0922582066619956 GWAS of prostate cancer rs2551182 2 24440417 24440417 intronic 0.693681 0.158840200711887 GWAS of prostate cancer rs2551122 2 24540591 24540591 intronic 0.679709 0.1676769795636

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000198399.14 ITSN2 604464