Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 25836 deletion PHF8, 12-BP DEL -1 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 na -1 -1 na na 25837 single nucleotide variant NM_015107.2(PHF8):c.631C>T (p.Arg211Ter) 121918522 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54040962 54040962 G A 25837 single nucleotide variant NM_015107.2(PHF8):c.631C>T (p.Arg211Ter) 121918522 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54014529 54014529 G A 25838 single nucleotide variant NM_015107.2(PHF8):c.529A>T (p.Lys177Ter) 121918523 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54043095 54043095 T A 25838 single nucleotide variant NM_015107.2(PHF8):c.529A>T (p.Lys177Ter) 121918523 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54016662 54016662 T A 25839 single nucleotide variant NM_015107.2(PHF8):c.836T>C (p.Phe279Ser) 121918524 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54037665 54037665 A G 25839 single nucleotide variant NM_015107.2(PHF8):c.836T>C (p.Phe279Ser) 121918524 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54011232 54011232 A G 97466 single nucleotide variant NM_015107.2(PHF8):c.1142-1G>A 386352389 MedGen:CN221809 X 54026395 54026395 C T 97466 single nucleotide variant NM_015107.2(PHF8):c.1142-1G>A 386352389 MedGen:CN221809 X 53999962 53999962 C T 135334 single nucleotide variant NM_015107.2(PHF8):c.606C>T (p.Asn202=) 77581173 MedGen:CN169374 X 54040987 54040987 G A 135334 single nucleotide variant NM_015107.2(PHF8):c.606C>T (p.Asn202=) 77581173 MedGen:CN169374 X 54014554 54014554 G A 135335 single nucleotide variant NM_015107.2(PHF8):c.1586G>A (p.Ser529Asn) 587780415 MedGen:CN221809 X 54020074 54020074 C T 135335 single nucleotide variant NM_015107.2(PHF8):c.1586G>A (p.Ser529Asn) 587780415 MedGen:CN221809 X 53993641 53993641 C T 135336 single nucleotide variant NM_015107.2(PHF8):c.441T>G (p.Val147=) 148215758 MedGen:CN169374 X 54044107 54044107 A C 135336 single nucleotide variant NM_015107.2(PHF8):c.441T>G (p.Val147=) 148215758 MedGen:CN169374 X 54017674 54017674 A C 164943 copy number gain GRCh38/hg38 Xp11.22(chrX:53899183-53976521)x2 -1 - X 53899183 53976521 na na 164943 copy number gain GRCh38/hg38 Xp11.22(chrX:53899183-53976521)x2 -1 - X 53942328 54019679 na na 164943 copy number gain GRCh38/hg38 Xp11.22(chrX:53899183-53976521)x2 -1 - X 3643874 3689636 na na 191703 single nucleotide variant NM_015107.2(PHF8):c.1731-1G>A 797044651 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54014378 54014378 C T 191703 single nucleotide variant NM_015107.2(PHF8):c.1731-1G>A 797044651 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 53987945 53987945 C T 192030 single nucleotide variant NM_015107.2(PHF8):c.2210C>G (p.Ser737Ter) 797044665 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54011580 54011580 G C 192030 single nucleotide variant NM_015107.2(PHF8):c.2210C>G (p.Ser737Ter) 797044665 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 53985147 53985147 G C 209132 single nucleotide variant NM_015107.2(PHF8):c.2720G>A (p.Arg907His) 142630105 MedGen:CN169374 X 53940446 53940446 C T 209132 single nucleotide variant NM_015107.2(PHF8):c.2720G>A (p.Arg907His) 142630105 MedGen:CN169374 X 53966879 53966879 C T 209133 single nucleotide variant NM_015107.2(PHF8):c.2131G>A (p.Glu711Lys) 41306749 MedGen:CN169374 X 53985226 53985226 C T 209133 single nucleotide variant NM_015107.2(PHF8):c.2131G>A (p.Glu711Lys) 41306749 MedGen:CN169374 X 54011659 54011659 C T 209134 single nucleotide variant NM_015107.2(PHF8):c.214C>A (p.His72Asn) 797045886 MedGen:CN169374 X 54022338 54022338 G T 209134 single nucleotide variant NM_015107.2(PHF8):c.214C>A (p.His72Asn) 797045886 MedGen:CN169374 X 54048771 54048771 G T 237511 single nucleotide variant NM_015107.2(PHF8):c.1141+5G>C 878853148 Human Phenotype Ontology:HP:0001249,MedGen:C3714756 X 54028583 54028583 C G 237511 single nucleotide variant NM_015107.2(PHF8):c.1141+5G>C 878853148 Human Phenotype Ontology:HP:0001249,MedGen:C3714756 X 54002150 54002150 C G 270769 single nucleotide variant NM_001184896.1(PHF8):c.62A>G (p.Asp21Gly) 886044852 MedGen:CN169374 X 54069208 54069208 T C 270769 single nucleotide variant NM_001184896.1(PHF8):c.62A>G (p.Asp21Gly) 886044852 MedGen:CN169374 X 54042775 54042775 T C 361248 deletion NM_015107.2(PHF8):c.377delT (p.Leu126Argfs) 1057518729 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54044171 54044171 A - 361248 deletion NM_015107.2(PHF8):c.377delT (p.Leu126Argfs) 1057518729 MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287 X 54017738 54017738 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 X 53974054 rs7065696 C G rs7065696 4.00E-07 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 G 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 rs7061449 X 54019295 54019295 intronic 0.752054 0.123750974488092 GWAS of prostate cancer rs11798878 X 54007889 54007889 intronic 0.46414 0.333351002081515 GWAS of prostate cancer rs7883019 X 53969347 53969347 UTR3 0.270858 0.567258332664758 GWAS of prostate cancer rs5960395 X 53976388 53976388 intronic 0.22134 0.654940094389553 GWAS of prostate cancer rs5960612 X 54066879 54066879 intronic 0.177544 0.750693999853051 GWAS of prostate cancer rs7892782 X 53963624 53963624 UTR3 0.166251 0.779235733735079

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000172943.19 PHF8 300560