Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 94418 single nucleotide variant NM_005781.4(TNK2):c.1912G>A (p.Val638Met) 201407161 MedGen:CN183915;MedGen:C0030567,Orphanet:ORPHA319705,SNOMED CT:C0030567 3 195595212 195595212 C T 94418 single nucleotide variant NM_005781.4(TNK2):c.1912G>A (p.Val638Met) 201407161 MedGen:CN183915;MedGen:C0030567,Orphanet:ORPHA319705,SNOMED CT:C0030567 3 195868341 195868341 C T 205433 single nucleotide variant NM_001010938.1(TNK2):c.1966G>A (p.Val656Met) 375205272 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 3 195595392 195595392 C T 205433 single nucleotide variant NM_001010938.1(TNK2):c.1966G>A (p.Val656Met) 375205272 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 3 195868521 195868521 C T 205434 single nucleotide variant NM_001010938.1(TNK2):c.955C>T (p.Arg319Cys) 767408627 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 3 195609043 195609043 G A 205434 single nucleotide variant NM_001010938.1(TNK2):c.955C>T (p.Arg319Cys) 767408627 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 3 195882172 195882172 G A 226708 single nucleotide variant NM_005781.4(TNK2):c.2930C>T (p.Ala977Val) 571171423 MedGen:C0030567,Orphanet:ORPHA319705,SNOMED CT:C0030567 3 195594092 195594092 G A 226708 single nucleotide variant NM_005781.4(TNK2):c.2930C>T (p.Ala977Val) 571171423 MedGen:C0030567,Orphanet:ORPHA319705,SNOMED CT:C0030567 3 195867221 195867221 G A 226709 single nucleotide variant NM_005781.4(TNK2):c.2630G>A (p.Arg877His) 112384084 MedGen:C0030567,Orphanet:ORPHA319705,SNOMED CT:C0030567;MedGen:CN169374 3 195594494 195594494 C T 226709 single nucleotide variant NM_005781.4(TNK2):c.2630G>A (p.Arg877His) 112384084 MedGen:C0030567,Orphanet:ORPHA319705,SNOMED CT:C0030567;MedGen:CN169374 3 195867623 195867623 C T 226710 single nucleotide variant NM_005781.4(TNK2):c.1088T>C (p.Val363Ala) 370013968 MedGen:C0030567,Orphanet:ORPHA319705,SNOMED CT:C0030567 3 195605390 195605390 A G 226710 single nucleotide variant NM_005781.4(TNK2):c.1088T>C (p.Val363Ala) 370013968 MedGen:C0030567,Orphanet:ORPHA319705,SNOMED CT:C0030567 3 195878519 195878519 A G 251072 single nucleotide variant NM_005781.4(TNK2):c.3113G>A (p.Arg1038His) 13433937 MedGen:CN169374 3 195864185 195864185 C T 251072 single nucleotide variant NM_005781.4(TNK2):c.3113G>A (p.Arg1038His) 13433937 MedGen:CN169374 3 195591056 195591056 C T 251073 single nucleotide variant NM_005781.4(TNK2):c.2668G>A (p.Val890Met) 148323328 MedGen:CN169374 3 195867585 195867585 C T 251073 single nucleotide variant NM_005781.4(TNK2):c.2668G>A (p.Val890Met) 148323328 MedGen:CN169374 3 195594456 195594456 C T 251074 single nucleotide variant NM_005781.4(TNK2):c.2319T>C (p.Ala773=) 1056749 MedGen:CN169374 3 195867934 195867934 A G 251074 single nucleotide variant NM_005781.4(TNK2):c.2319T>C (p.Ala773=) 1056749 MedGen:CN169374 3 195594805 195594805 A G 251075 single nucleotide variant NM_005781.4(TNK2):c.2174C>T (p.Pro725Leu) 56260729 MedGen:CN169374 3 195594950 195594950 G A 251075 single nucleotide variant NM_005781.4(TNK2):c.2174C>T (p.Pro725Leu) 56260729 MedGen:CN169374 3 195868079 195868079 G A 251076 single nucleotide variant NM_005781.4(TNK2):c.2163G>A (p.Pro721=) 62283329 MedGen:CN169374 3 195594961 195594961 C T 251076 single nucleotide variant NM_005781.4(TNK2):c.2163G>A (p.Pro721=) 62283329 MedGen:CN169374 3 195868090 195868090 C T 251077 single nucleotide variant NM_005781.4(TNK2):c.2095A>G (p.Ser699Gly) 139797100 MedGen:CN169374 3 195868158 195868158 T C 251077 single nucleotide variant NM_005781.4(TNK2):c.2095A>G (p.Ser699Gly) 139797100 MedGen:CN169374 3 195595029 195595029 T C 251078 single nucleotide variant NM_005781.4(TNK2):c.2070G>A (p.Pro690=) 7516 MedGen:CN169374 3 195868183 195868183 C T 251078 single nucleotide variant NM_005781.4(TNK2):c.2070G>A (p.Pro690=) 7516 MedGen:CN169374 3 195595054 195595054 C T 251079 single nucleotide variant NM_005781.4(TNK2):c.1719C>T (p.Phe573=) 1056726 MedGen:CN169374 3 195868534 195868534 G A 251079 single nucleotide variant NM_005781.4(TNK2):c.1719C>T (p.Phe573=) 1056726 MedGen:CN169374 3 195595405 195595405 G A 251080 single nucleotide variant NM_005781.4(TNK2):c.1029C>T (p.Ile343=) 55842111 MedGen:CN169374 3 195605449 195605449 G A 251080 single nucleotide variant NM_005781.4(TNK2):c.1029C>T (p.Ile343=) 55842111 MedGen:CN169374 3 195878578 195878578 G A 251081 single nucleotide variant NM_005781.4(TNK2):c.915C>T (p.Arg305=) 3761718 MedGen:CN169374 3 195606019 195606019 G A 251081 single nucleotide variant NM_005781.4(TNK2):c.915C>T (p.Arg305=) 3761718 MedGen:CN169374 3 195879148 195879148 G A 251082 single nucleotide variant NM_005781.4(TNK2):c.843C>T (p.Asp281=) 776183942 MedGen:CN169374 3 195608966 195608966 G A 251082 single nucleotide variant NM_005781.4(TNK2):c.843C>T (p.Asp281=) 776183942 MedGen:CN169374 3 195882095 195882095 G A 251083 single nucleotide variant NM_005781.4(TNK2):c.351C>T (p.Leu117=) 56003471 MedGen:CN169374 3 195611788 195611788 G A 251083 single nucleotide variant NM_005781.4(TNK2):c.351C>T (p.Leu117=) 56003471 MedGen:CN169374 3 195884917 195884917 G A 251084 single nucleotide variant NM_005781.4(TNK2):c.84T>C (p.Asp28=) 3747669 MedGen:CN169374 3 195615376 195615376 A G 251084 single nucleotide variant NM_005781.4(TNK2):c.84T>C (p.Asp28=) 3747669 MedGen:CN169374 3 195888505 195888505 A G 359505 single nucleotide variant NM_001010938.1(TNK2):c.1204-2A>G 375985092 MedGen:CN169374 3 195878594 195878594 T C 359505 single nucleotide variant NM_001010938.1(TNK2):c.1204-2A>G 375985092 MedGen:CN169374 3 195605465 195605465 T C 359537 single nucleotide variant NM_001010938.1(TNK2):c.3126+106A>T 202132773 MedGen:CN169374 3 195867255 195867255 T A 359537 single nucleotide variant NM_001010938.1(TNK2):c.3126+106A>T 202132773 MedGen:CN169374 3 195594126 195594126 T 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 3 195594494 rs112384084 C T rs112384084 0.00041 Prostate cancer HPOID:0012125 DOID:10283 C missense GWASdb_trait 3 195596907 rs2278034 T C rs2278034 5.00E-06 Bronchopulmonary dysplasia HPOID:0010960 DOID:11650 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000061938.16 TNK2 606994