Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 102942 single nucleotide variant NM_052844.3(WDR34):c.1022C>T (p.Ala341Val) 587777091 MedGen:C3810200,OMIM:615633 9 131397160 131397160 G A 102942 single nucleotide variant NM_052844.3(WDR34):c.1022C>T (p.Ala341Val) 587777091 MedGen:C3810200,OMIM:615633 9 128634881 128634881 G A 102943 single nucleotide variant NM_052844.3(WDR34):c.1061C>T (p.Thr354Met) 587777092 MedGen:C3810200,OMIM:615633 9 131397121 131397121 G A 102943 single nucleotide variant NM_052844.3(WDR34):c.1061C>T (p.Thr354Met) 587777092 MedGen:C3810200,OMIM:615633 9 128634842 128634842 G A 102944 single nucleotide variant NM_052844.3(WDR34):c.1339C>T (p.Arg447Trp) 587777093 MedGen:C3810200,OMIM:615633 9 131396538 131396538 G A 102944 single nucleotide variant NM_052844.3(WDR34):c.1339C>T (p.Arg447Trp) 587777093 MedGen:C3810200,OMIM:615633 9 128634259 128634259 G A 102945 single nucleotide variant NM_052844.3(WDR34):c.1340G>A (p.Arg447Gln) 587777094 MedGen:C3810200,OMIM:615633 9 131396537 131396537 C T 102945 single nucleotide variant NM_052844.3(WDR34):c.1340G>A (p.Arg447Gln) 587777094 MedGen:C3810200,OMIM:615633 9 128634258 128634258 C T 102946 single nucleotide variant NM_052844.3(WDR34):c.982-2A>C 587777095 MedGen:C3810200,OMIM:615633 9 131397202 131397202 T G 102946 single nucleotide variant NM_052844.3(WDR34):c.982-2A>C 587777095 MedGen:C3810200,OMIM:615633 9 128634923 128634923 T G 102947 single nucleotide variant NM_052844.3(WDR34):c.1177G>A (p.Gly393Ser) 587777096 MedGen:C3810200,OMIM:615633 9 131397005 131397005 C T 102947 single nucleotide variant NM_052844.3(WDR34):c.1177G>A (p.Gly393Ser) 587777096 MedGen:C3810200,OMIM:615633 9 128634726 128634726 C T 102948 deletion NM_052844.3(WDR34):c.1541_1542delCA (p.Thr514Argfs) 431905519 MedGen:C3810200,OMIM:615633 9 131396092 131396093 TG - 102948 deletion NM_052844.3(WDR34):c.1541_1542delCA (p.Thr514Argfs) 431905519 MedGen:C3810200,OMIM:615633 9 128633813 128633814 TG - 102949 single nucleotide variant NM_052844.3(WDR34):c.472C>T (p.Gln158Ter) 587777097 MedGen:C3810200,OMIM:615633 9 131399270 131399270 G A 102949 single nucleotide variant NM_052844.3(WDR34):c.472C>T (p.Gln158Ter) 587777097 MedGen:C3810200,OMIM:615633 9 128636991 128636991 G A 102950 single nucleotide variant NM_052844.3(WDR34):c.1307A>G (p.Lys436Arg) 587777098 MedGen:C3810200,OMIM:615633 9 131396570 131396570 T C 102950 single nucleotide variant NM_052844.3(WDR34):c.1307A>G (p.Lys436Arg) 587777098 MedGen:C3810200,OMIM:615633 9 128634291 128634291 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 9 131403221 rs12380424 G T rs12380424 6.00E-06 Axial length HPOID:0000545 DOID:11830 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000119333.11 WDR34 613363