Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 40021 single nucleotide variant RNF213, ARG4859LYS -1 MedGen:C1846689,OMIM:607151 na -1 -1 na na 48299 single nucleotide variant NM_001256071.2(RNF213):c.14429G>A (p.Arg4810Lys) 112735431 MedGen:C1846689,OMIM:607151 17 78358945 78358945 G A 48299 single nucleotide variant NM_001256071.2(RNF213):c.14429G>A (p.Arg4810Lys) 112735431 MedGen:C1846689,OMIM:607151 17 80385145 80385145 G A 48300 single nucleotide variant NM_001256071.2(RNF213):c.12037G>A (p.Asp4013Asn) 397514563 MedGen:C1846689,OMIM:607151 17 78341825 78341825 G A 48300 single nucleotide variant NM_001256071.2(RNF213):c.12037G>A (p.Asp4013Asn) 397514563 MedGen:C1846689,OMIM:607151 17 80368025 80368025 G A 206591 deletion NM_001256071.2(RNF213):c.1587_1589delCGC (p.Ala531del) 797045186 MedGen:C1846689,OMIM:607151 17 80294835 80294837 CGC - 206591 deletion NM_001256071.2(RNF213):c.1587_1589delCGC (p.Ala531del) 797045186 MedGen:C1846689,OMIM:607151 17 78268634 78268636 CGC - 206592 single nucleotide variant NM_001256071.2(RNF213):c.11765G>A (p.Arg3922Gln) 766292366 MedGen:C1846689,OMIM:607151 17 78338247 78338247 G A 206592 single nucleotide variant NM_001256071.2(RNF213):c.11765G>A (p.Arg3922Gln) 766292366 MedGen:C1846689,OMIM:607151 17 80364447 80364447 G A 206593 single nucleotide variant NM_001256071.2(RNF213):c.11990G>A (p.Cys3997Tyr) 797045189 MedGen:C1846689,OMIM:607151 17 78341778 78341778 G A 206593 single nucleotide variant NM_001256071.2(RNF213):c.11990G>A (p.Cys3997Tyr) 797045189 MedGen:C1846689,OMIM:607151 17 80367978 80367978 G A 206594 single nucleotide variant NM_001256071.2(RNF213):c.12055C>T (p.Arg4019Cys) 139265462 MedGen:C1846689,OMIM:607151 17 78341843 78341843 C T 206594 single nucleotide variant NM_001256071.2(RNF213):c.12055C>T (p.Arg4019Cys) 139265462 MedGen:C1846689,OMIM:607151 17 80368043 80368043 C T 206595 single nucleotide variant NM_001256071.2(RNF213):c.12226A>G (p.Ile4076Val) 746280089 MedGen:C1846689,OMIM:607151 17 80369572 80369572 A G 206595 single nucleotide variant NM_001256071.2(RNF213):c.12226A>G (p.Ile4076Val) 746280089 MedGen:C1846689,OMIM:607151 17 78343372 78343372 A G 206596 deletion NM_001256071.2(RNF213):c.12343_12345delAAA (p.Lys4115del) 797045187 MedGen:C1846689,OMIM:607151 17 78343585 78343587 AAA - 206596 deletion NM_001256071.2(RNF213):c.12343_12345delAAA (p.Lys4115del) 797045187 MedGen:C1846689,OMIM:607151 17 80369785 80369787 AAA - 206597 single nucleotide variant NM_001256071.2(RNF213):c.12711C>G (p.Asp4237Glu) 773785078 MedGen:C1846689,OMIM:607151 17 80372694 80372694 C G 206597 single nucleotide variant NM_001256071.2(RNF213):c.12711C>G (p.Asp4237Glu) 773785078 MedGen:C1846689,OMIM:607151 17 78346494 78346494 C G 206598 single nucleotide variant NM_001256071.2(RNF213):c.14195A>C (p.Lys4732Thr) 148776624 MedGen:C1846689,OMIM:607151 17 80383801 80383801 A C 206598 single nucleotide variant NM_001256071.2(RNF213):c.14195A>C (p.Lys4732Thr) 148776624 MedGen:C1846689,OMIM:607151 17 78357601 78357601 A C 206599 insertion NM_001256071.2(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln) 797045188 MedGen:C1846689,OMIM:607151 17 80386819 80386820 - GGCAAACAGAGCGTGCAGCAG 206599 insertion NM_001256071.2(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln) 797045188 MedGen:C1846689,OMIM:607151 17 78360619 78360620 - GGCAAACAGAGCGTGCAGCAG 206600 single nucleotide variant NM_001256071.2(RNF213):c.15487G>A (p.Val5163Ile) 201733659 MedGen:C1846689,OMIM:607151 17 80393361 80393361 G A 206600 single nucleotide variant NM_001256071.2(RNF213):c.15487G>A (p.Val5163Ile) 201733659 MedGen:C1846689,OMIM:607151 17 78367161 78367161 G 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 17 78324259 rs12051723 G T rs12051723 3.00E-06 ROSUVASTATIN FLUOROBENZENES|PYRIMIDINES|SULFONAMIDES|1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE Lipoprotein-associated phospholipase A2 activity change in response to statin therapy HPOID:0010979 DOID:3393|DOID:1936 G intron GWASdb_drug 17 78268999 rs9891691 C G rs9891691 4.26E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 17 78272814 rs9905727 A G rs9905727 6.72E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 17 78283987 rs8081176 T C rs8081176 1.50E-05 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 C intron GWASdb_trait 17 78286177 rs9674807 C T rs9674807 0.00061488 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 T intron GWASdb_trait 17 78297779 rs7225029 G A rs7225029 6.74E-04 Celiac disease HPOID:0001438 DOID:10608 G intron GWASdb_trait 17 78324259 rs12051723 G T rs12051723 3.00E-06 Lipoprotein-associated phospholipase A2 activity change in response to statin therapy HPOID:0010979 DOID:3393|DOID:1936 G intron GWASdb_trait 17 78337893 rs36103733 C T rs36103733 0.000224 Sarcoidosis HPOID:0012220 DOID:11335 C intron GWASdb_trait 17 78348494 rs6565681 A G rs6565681 2.00E-08 Moyamoya disease HPOID:0011834 DOID:13099 G intron GWASdb_trait 17 78362651 rs7223701 T G rs7223701 6.24E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000173821.19 RNF213 613768