Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 154773 copy number gain GRCh38/hg38 13q14.3(chr13:51576735-51698516)x3 -1 - 13 52150871 52272652 na na 154773 copy number gain GRCh38/hg38 13q14.3(chr13:51576735-51698516)x3 -1 - 13 51576735 51698516 na na 154773 copy number gain GRCh38/hg38 13q14.3(chr13:51576735-51698516)x3 -1 - 13 51048872 51170653 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 13 52194944 rs9535720 T C rs9535720 6.56E-04 Sensory disturbances after bilateral sagittal split ramus osteotomy HPOID:0003401 DOID:1491|DOID:0050155 C intron GWASdb_trait 13 52222222 rs17597531 C T rs17597531 2.78E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 13 52260398 rs7327107 C G rs7327107 2.74E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 13 52260398 rs7327107 C G rs7327107 1.25E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 G intron GWASdb_trait 13 52303139 rs9563069 T C rs9563069 9.16E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 C intron GWASdb_trait 13 52326477 rs12146894 A G rs12146894 4.73E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 G intron GWASdb_trait 13 52327020 rs9526793 G A rs9526793 1.60E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000139668.8 WDFY2 610418