Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 72245 copy number loss GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0 -1 - X 19695151 19900092 na na 72245 copy number loss GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0 -1 - X 19677033 19881974 na na 72245 copy number loss GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0 -1 - X 19605072 19810013 na na 106739 single nucleotide variant NM_031892.2(SH3KBP1):c.1258A>G (p.Arg420Gly) 483352756 MedGen:CN221809 X 19606801 19606801 T C 106739 single nucleotide variant NM_031892.2(SH3KBP1):c.1258A>G (p.Arg420Gly) 483352756 MedGen:CN221809 X 19588683 19588683 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 X 19561853 rs12013533 T C rs12013533 2.73E-04 Parkinson's disease HPOID:0001300 DOID:14330 C intron GWASdb_trait X 19578484 rs7049939 A G rs7049939 3.33E-04 Parkinson's disease HPOID:0001300 DOID:14330 G intron GWASdb_trait X 19578484 rs7049939 A G rs7049939 5.21E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 G intron GWASdb_trait X 19592299 rs5909125 T C rs5909125 5.03E-04 Parkinson's disease HPOID:0001300 DOID:14330 C intron GWASdb_trait X 19700342 rs4131939 C T rs4131939 7.67E-05 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 G intron GWASdb_trait X 19723880 rs5955573 G C rs5955573 5.58E-05 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 G intron GWASdb_trait X 19842599 rs7889157 A C rs7889157 9.91E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 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 rs5909133 X 19885648 19885648 intronic 0.92166 0.0354292604608809 GWAS of prostate cancer rs5955819 X 19599813 19599813 intronic 0.918917 0.036723713934751906 GWAS of prostate cancer rs767386 X 19794250 19794250 intronic 0.854959 0.0680547115884366 GWAS of prostate cancer rs12013533 X 19561853 19561853 intronic 0.85072 0.0702133570298966 GWAS of prostate cancer rs5955813 X 19558891 19558891 intronic 0.847044 0.07209402950295969 GWAS of prostate cancer rs11797058 X 19902652 19902652 intronic 0.838292 0.0766046783867129 GWAS of prostate cancer rs7049939 X 19578484 19578484 intronic 0.76989 0.11357132132836 GWAS of prostate cancer rs5909125 X 19592299 19592299 intronic 0.241236 0.617557881296798 GWAS of prostate cancer rs5955839 X 19748547 19748547 intronic 0.196264 0.70715935417055 GWAS of prostate cancer rs6527940 X 19642630 19642630 intronic 0.065269 1.1852930411696398 GWAS of prostate cancer rs5955572 X 19677974 19677974 intronic 0.064509 1.1903796903621602 GWAS of prostate cancer rs5955853 X 19872191 19872191 intronic 0.009756 2.01072820835831 GWAS of prostate cancer rs1017874 X 19869646 19869646 intronic 0.004624 2.3349821745875303 GWAS of prostate cancer rs5955856 X 19882931 19882931 intronic 0.003998 2.3981572102179 GWAS of prostate cancer rs5955861 X 19903991 19903991 intronic 0.003339 2.47638358094563 GWAS of prostate cancer rs11795873 X 19678658 19678658 intronic 0.997383 0.00113803843278733

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000147010.17 SH3KBP1 300374