Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 138115 single nucleotide variant NM_025133.4(FBXO11):c.2239A>G (p.Ser747Gly) 200771165 MedGen:CN169374 2 48036361 48036361 T C 138115 single nucleotide variant NM_025133.4(FBXO11):c.2239A>G (p.Ser747Gly) 200771165 MedGen:CN169374 2 47809222 47809222 T C 138116 single nucleotide variant NM_025133.4(FBXO11):c.124A>T (p.Thr42Ser) 17036993 MedGen:CN169374 2 48066624 48066624 T A 138116 single nucleotide variant NM_025133.4(FBXO11):c.124A>T (p.Thr42Ser) 17036993 MedGen:CN169374 2 47839485 47839485 T A 138117 single nucleotide variant NM_025133.4(FBXO11):c.127A>G (p.Thr43Ala) 587778349 MedGen:CN169374 2 48066621 48066621 T C 138117 single nucleotide variant NM_025133.4(FBXO11):c.127A>G (p.Thr43Ala) 587778349 MedGen:CN169374 2 47839482 47839482 T C 139284 deletion NM_025133.4(FBXO11):c.1975+68delC 551275428 MedGen:CN169374 2 48040305 48040305 G - 139284 deletion NM_025133.4(FBXO11):c.1975+68delC 551275428 MedGen:CN169374 2 47813166 47813166 G - 139285 deletion NM_025133.4(FBXO11):c.1975+50_1975+52del 587777947 MedGen:CN169374 2 48040321 48040323 GAA - 139285 deletion NM_025133.4(FBXO11):c.1975+50_1975+52del 587777947 MedGen:CN169374 2 47813182 47813184 GAA - 160828 copy number loss GRCh38/hg38 2p16.3(chr2:47813079-47894079)x1 -1 - 2 48040218 48121218 na na 160828 copy number loss GRCh38/hg38 2p16.3(chr2:47813079-47894079)x1 -1 - 2 47813079 47894079 na na 160828 copy number loss GRCh38/hg38 2p16.3(chr2:47813079-47894079)x1 -1 - 2 47893722 47974722 na na 265839 single nucleotide variant NM_138364.3(PRMT9):c.773A>T (p.Asp258Val) 200956405 MedGen:CN169374 4 148591865 148591865 T A 265839 single nucleotide variant NM_138364.3(PRMT9):c.773A>T (p.Asp258Val) 200956405 MedGen:CN169374 4 147670714 147670714 T 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 48039484 rs10490303 T G rs10490303 2.25E-05 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 A intron GWASdb_trait 2 48039484 rs10490303 T G rs10490303 7.11E-05 Neutrophil count HPOID:0001874 DOID:74|DOID:526 A intron GWASdb_trait 2 48041377 rs330787 A G rs330787 4.64E-05 Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma) HPOID:0100526|HPOID:0006753|HPOID:0002860 DOID:1324|DOID:10534|DOID:3748 C intron GWASdb_trait 2 48041377 rs330787 A G rs330787 0.0000464 Otitis media (children 3 years old or younger) HPOID:0000388 DOID:10754 C intron GWASdb_trait 2 48047335 rs4381823 A G rs4381823 6.00E-06 Schizophrenia HPOID:0100753 DOID:5419 A intron GWASdb_trait 2 48098708 rs12463595 C T rs12463595 3.52E-05 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 2 48131936 rs13035558 T C rs13035558 8.43E-05 Schizophrenia HPOID:0100753 DOID:5419 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 rs2134056 2 48073117 48073117 intronic 0.866115 0.0624244399115469 GWAS of prostate cancer rs10490303 2 48039484 48039484 intronic 0.789837 0.10246252555079101

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000138081.20 FBXO11 607871