Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 161320 copy number gain GRCh38/hg38 7q11.21(chr7:66678941-66728431)x3 -1 - 7 66143928 66193418 na na 161320 copy number gain GRCh38/hg38 7q11.21(chr7:66678941-66728431)x3 -1 - 7 66678941 66728431 na na 161320 copy number gain GRCh38/hg38 7q11.21(chr7:66678941-66728431)x3 -1 - 7 65781363 65830853 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 7 66211010 rs2707856 T A rs2707856 6.17E-06 Aortic root size HPOID:0002597 DOID:1287 T intron GWASdb_trait 7 66228732 rs10252765 G C rs10252765 5.27E-06 Aortic root size HPOID:0002597 DOID:1287 C intron GWASdb_trait 7 66234585 rs17138012 A G rs17138012 4.00E-04 Aortic root size HPOID:0002597 DOID:1287 A intron GWASdb_trait 7 66239588 rs10950050 T G rs10950050 3.21E-04 Aortic root size HPOID:0002597 DOID:1287 T intron GWASdb_trait 7 66240008 rs1962050 A G rs1962050 1.08E-04 Aortic root size HPOID:0002597 DOID:1287 T,C intron GWASdb_trait 7 66258080 rs10215516 G A rs10215516 2.34E-05 Aortic root size HPOID:0002597 DOID:1287 A,G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000154710.15 RABGEF1 609700