| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 188264 | single nucleotide variant | NM_016218.3(POLK):c.*66T>C | 786205688 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75598084 | 75598084 | T | C |
| 188264 | single nucleotide variant | NM_016218.3(POLK):c.*66T>C | 786205688 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74893909 | 74893909 | T | C |
| 214847 | single nucleotide variant | NM_016218.3(POLK):c.85G>A (p.Glu29Lys) | 148960463 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74842932 | 74842932 | G | A |
| 214847 | single nucleotide variant | NM_016218.3(POLK):c.85G>A (p.Glu29Lys) | 148960463 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75547107 | 75547107 | G | A |
| 214848 | single nucleotide variant | NM_016218.3(POLK):c.410C>T (p.Ser137Phe) | 863225454 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74869564 | 74869564 | C | T |
| 214848 | single nucleotide variant | NM_016218.3(POLK):c.410C>T (p.Ser137Phe) | 863225454 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75573739 | 75573739 | C | T |
| 214849 | single nucleotide variant | NM_016218.3(POLK):c.461G>A (p.Gly154Glu) | 749804502 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75573790 | 75573790 | G | A |
| 214849 | single nucleotide variant | NM_016218.3(POLK):c.461G>A (p.Gly154Glu) | 749804502 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74869615 | 74869615 | G | A |
| 214850 | single nucleotide variant | NM_016218.3(POLK):c.464T>C (p.Phe155Ser) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75573793 | 75573793 | T | C |
| 214850 | single nucleotide variant | NM_016218.3(POLK):c.464T>C (p.Phe155Ser) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74869618 | 74869618 | T | C |
| 214851 | single nucleotide variant | NM_016218.3(POLK):c.512T>C (p.Phe171Ser) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74869666 | 74869666 | T | C |
| 214851 | single nucleotide variant | NM_016218.3(POLK):c.512T>C (p.Phe171Ser) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75573841 | 75573841 | T | C |
| 214852 | single nucleotide variant | NM_016218.3(POLK):c.1256A>G (p.Glu419Gly) | 111584802 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74882880 | 74882880 | A | G |
| 214852 | single nucleotide variant | NM_016218.3(POLK):c.1256A>G (p.Glu419Gly) | 111584802 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75587055 | 75587055 | A | G |
| 214853 | single nucleotide variant | NM_016218.3(POLK):c.1284G>A (p.Ala428=) | 770984846 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75590368 | 75590368 | G | A |
| 214853 | single nucleotide variant | NM_016218.3(POLK):c.1284G>A (p.Ala428=) | 770984846 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74886193 | 74886193 | G | A |
| 214854 | single nucleotide variant | NM_016218.3(POLK):c.1289A>G (p.Glu430Gly) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74886198 | 74886198 | A | G |
| 214854 | single nucleotide variant | NM_016218.3(POLK):c.1289A>G (p.Glu430Gly) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75590373 | 75590373 | A | G |
| 214855 | single nucleotide variant | NM_016218.3(POLK):c.1324C>T (p.Leu442Phe) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75590408 | 75590408 | C | T |
| 214855 | single nucleotide variant | NM_016218.3(POLK):c.1324C>T (p.Leu442Phe) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74886233 | 74886233 | C | T |
| 214856 | single nucleotide variant | NM_016218.3(POLK):c.1341G>A (p.Gln447=) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75590425 | 75590425 | G | A |
| 214856 | single nucleotide variant | NM_016218.3(POLK):c.1341G>A (p.Gln447=) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74886250 | 74886250 | G | A |
| 214857 | single nucleotide variant | NM_016218.3(POLK):c.1345G>A (p.Glu449Lys) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74886254 | 74886254 | G | A |
| 214857 | single nucleotide variant | NM_016218.3(POLK):c.1345G>A (p.Glu449Lys) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75590429 | 75590429 | G | A |
| 214858 | single nucleotide variant | NM_016218.3(POLK):c.1381A>G (p.Lys461Glu) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74889727 | 74889727 | A | G |
| 214858 | single nucleotide variant | NM_016218.3(POLK):c.1381A>G (p.Lys461Glu) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75593902 | 75593902 | A | G |
| 214859 | single nucleotide variant | NM_016218.3(POLK):c.1460T>C (p.Ile487Thr) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75593981 | 75593981 | T | C |
| 214859 | single nucleotide variant | NM_016218.3(POLK):c.1460T>C (p.Ile487Thr) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74889806 | 74889806 | T | C |
| 214860 | single nucleotide variant | NM_016218.3(POLK):c.1582A>T (p.Ser528Cys) | 139591993 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74892100 | 74892100 | A | T |
| 214860 | single nucleotide variant | NM_016218.3(POLK):c.1582A>T (p.Ser528Cys) | 139591993 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75596275 | 75596275 | A | T |
| 214861 | single nucleotide variant | NM_016218.3(POLK):c.1652A>T (p.Asp551Val) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74892170 | 74892170 | A | T |
| 214861 | single nucleotide variant | NM_016218.3(POLK):c.1652A>T (p.Asp551Val) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75596345 | 75596345 | A | T |
| 214862 | single nucleotide variant | NM_016218.3(POLK):c.1692G>A (p.Lys564=) | 781194178 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74892210 | 74892210 | G | A |
| 214862 | single nucleotide variant | NM_016218.3(POLK):c.1692G>A (p.Lys564=) | 781194178 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75596385 | 75596385 | G | A |
| 214863 | single nucleotide variant | NM_016218.3(POLK):c.1741G>A (p.Asp581Asn) | 863225457 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75596434 | 75596434 | G | A |
| 214863 | single nucleotide variant | NM_016218.3(POLK):c.1741G>A (p.Asp581Asn) | 863225457 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74892259 | 74892259 | G | A |
| 214864 | single nucleotide variant | NM_016218.3(POLK):c.2033C>T (p.Ser678Phe) | 863225455 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75596726 | 75596726 | C | T |
| 214864 | single nucleotide variant | NM_016218.3(POLK):c.2033C>T (p.Ser678Phe) | 863225455 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74892551 | 74892551 | C | T |
| 214865 | single nucleotide variant | NM_016218.3(POLK):c.2192T>A (p.Leu731His) | 863225456 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75596885 | 75596885 | T | A |
| 214865 | single nucleotide variant | NM_016218.3(POLK):c.2192T>A (p.Leu731His) | 863225456 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74892710 | 74892710 | T | A |
| 214866 | single nucleotide variant | NM_016218.3(POLK):c.2598T>G (p.Asp866Glu) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 75598003 | 75598003 | T | G |
| 214866 | single nucleotide variant | NM_016218.3(POLK):c.2598T>G (p.Asp866Glu) | -1 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 5 | 74893828 | 74893828 | T | G |