Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 153896 copy number gain GRCh38/hg38 2p25.3(chr2:153031-252990)x3 -1 - 2 153031 252990 na na 153896 copy number gain GRCh38/hg38 2p25.3(chr2:153031-252990)x3 -1 - 2 153031 252990 na na 153896 copy number gain GRCh38/hg38 2p25.3(chr2:153031-252990)x3 -1 - 2 143031 242990 na na 161145 copy number loss GRCh38/hg38 2p25.3(chr2:186745-255735)x1 -1 - 2 186745 255735 na na 161145 copy number loss GRCh38/hg38 2p25.3(chr2:186745-255735)x1 -1 - 2 186745 255735 na na 161145 copy number loss GRCh38/hg38 2p25.3(chr2:186745-255735)x1 -1 - 2 176745 245735 na na 162272 copy number loss GRCh38/hg38 2p25.3(chr2:84669-229081)x1 -1 - 2 84669 229081 na na 162272 copy number loss GRCh38/hg38 2p25.3(chr2:84669-229081)x1 -1 - 2 84669 229081 na na 162272 copy number loss GRCh38/hg38 2p25.3(chr2:84669-229081)x1 -1 - 2 74669 219081 na na

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 239416 rs300703 C T rs300703 2.70E-05 Type 2 diabetes HPOID:0005978 DOID:9352 C,T intron GWASdb_trait 2 242800 rs10181051 T C rs10181051 5.38E-05 Neuroblastoma HPOID:0003006 DOID:769 T intron GWASdb_trait 2 263270 rs10167992 T C rs10167992 6.90E-04 Response to TNF antagonist treatment HPOID:0001370 DOID:7148 C 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 rs7596678 2 262553 262553 intronic 0.774983 0.110707824057778 GWAS of prostate cancer rs1461028 2 238975 238975 intronic 0.752203 0.123664938819964 GWAS of prostate cancer rs4455191 2 256278 256278 intronic 0.734758 0.133855676657948

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000035115.21 SH3YL1 617314