Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23106 single nucleotide variant NM_198217.2(ING1):c.512G>C (p.Cys171Ser) 121909250 MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037 13 111372083 111372083 G C 23106 single nucleotide variant NM_198217.2(ING1):c.512G>C (p.Cys171Ser) 121909250 MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037 13 110719736 110719736 G C 23107 single nucleotide variant NM_198217.2(ING1):c.515A>G (p.Asn172Ser) 121909251 MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037 13 111372086 111372086 A G 23107 single nucleotide variant NM_198217.2(ING1):c.515A>G (p.Asn172Ser) 121909251 MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037 13 110719739 110719739 A G 23108 single nucleotide variant NM_198217.2(ING1):c.443C>A (p.Ala148Asp) 121909252 MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037 13 111372014 111372014 C A 23108 single nucleotide variant NM_198217.2(ING1):c.443C>A (p.Ala148Asp) 121909252 MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037 13 110719667 110719667 C A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000153487.12 ING1 601566