Table 3 Deleterious nsSNPs in dbSNP. Mutations in dbSNP with MAF > 5% predicted to be deleterious by at least four of the methods
Ensembl Gene Id | Hugoname | Gene description | dbSNP id | Mutation | MAF |
|---|---|---|---|---|---|
ENSG00000100116 | GCAT | 2-amino-3-ketobutyrate coenzyme A ligase | rs710187 | R39C | 47 |
ENSG00000133048 | CHI3L1 | Chitinase-3 like protein 1 | rs880633 | R145G | 47 |
ENSG00000148773 | MKI67 | Antigen KI-67 | rs1063535 | P2608L | 47 |
ENSG00000168124 | OR1F1 | Olfactory receptor 1F1 | rs1834026 | F75S | 44 |
ENSG00000147576 | ADHFE1 | alcoho dehydrogenase | rs1060242 | C401R | 42 |
ENSG00000122359 | ANXA11 | Annexin A11 | rs1049550 | R230C | 41 |
ENSG00000137124 | ALDH1B1 | Aldehyde dehydrogenase X | rs2073478 | R107L | 41 |
ENSG00000132677 | RHBG | Rhesus type B glycoprotein | rs3748569 | G315R | 39 |
ENSG00000108759 | KRTHA2 | Keratin, type I cuticular HA2 | rs2071563 | T395M | 38 |
ENSG00000006788 | MYH13 | Myosin heavy chain | rs2074877 | M1071V | 38 |
ENSG00000114480 | GBE1 | 1,4-alpha-glucan branching enzyme | rs2305246 | R190G | 35 |
ENSG00000104901 | DKKL1 | Dickkopf-like protein 1 | rs1054770 | G187S | 31 |
ENSG00000163482 | STK36 | serine/threonine kinase 36 fused homolog | rs1863704 | G1003D | 30 |
ENSG00000125775 | SDCBP2 | Syntenin-2 | rs1048621 | R138C | 28 |
ENSG00000176937 | OR52R1 | Olfactory receptor 52R1. | rs7941731 | I128T | 28 |
ENSG00000172071 | EIF2AK3 | Eukaryotic translation initiation factor 2a3 | rs867529 | S136C | 27 |
ENSG00000137809 | ITGA11 | Integrin alpha-11 | rs7168069 | L524R | 26 |
ENSG00000149305 | HTR3B | 5-hydroxytryptamine serotonin receptor 3B | rs1176744 | Y129S | 25 |
ENSG00000132677 | RHBG | Rhesus type B glycoprotein | rs11586833 | V143D | 25 |
ENSG00000168787 | OR12D2 | Olfactory receptor | rs2073152 | S121C | 23 |
ENSG00000072571 | HMMR | Hyaluronan mediated motility receptor | rs299284 | R92C | 13 |
ENSG00000143412 | ANXA9 | Annexin A9 | rs267733 | D159G | 13 |
ENSG00000113108 | APBB3 | Amyloid beta A4 protein-binding family B3 | rs250430 | C240R | 13 |
ENSG00000070371 | CLTCL1 | Clathrin heavy chain 2 | rs807459 | Y279C | 12 |
ENSG00000070371 | CLTCL1 | Clathrin heavy chain 2 | rs712952 | R1046C | 12 |
ENSG00000070371 | CLTCL1 | Clathrin heavy chain 2 | rs1633399 | I1394T | 12 |
ENSG00000165799 | RNASE7 | Ribonuclease 7 | rs1243469 | H116Y | 12 |
ENSG00000167207 | CARD15 | Caspase recruitment domain protein 15 | rs2066844 | R702W | 11 |
ENSG00000141504 | SAT2 | Diamine acetyltransferase 2 | rs13894 | R126C | 10 |
ENSG00000100033 | PRODH | Proline oxidase | rs450046 | R521Q | 7.5 |
ENSG00000183059 | unknown | Annexin A2 pseudogene 2. | rs855523 | E53A | 7.5 |
ENSG00000174942 | OR5R1 | Olfactory receptor 5R1 | rs7111634 | D121G | 7.5 |
ENSG00000122679 | RAMP3 | Receptor activity-modifying protein 3 | rs2074654 | W56R | 5.8 |
ENSG00000005844 | ITGAL | Leukocyte adhesion glycoprotein 1 | rs1064524 | R214W | 5.8 |
ENSG00000187021 | PNLIPRP1 | Pancreatic lipase related protein 1 | rs11197744 | N61D | 5 |