SNP ID | Gene Symbol | SNP Name | dbSNP ID | SNP Location | Chromosome Location (GRCh38.p7) | SIFT Score/Prediction | PolyPhen-2 Score/Prediction | PANTHER subSPEC | PANTHER Pdeleterious | MutPred Pdeleterious | SNPs3D Score |
---|---|---|---|---|---|---|---|---|---|---|---|
SNP1 | KCNJ11 | E23K | rs5219 | Exon 1 | 11:17388025 | 1.00/Tolerated | 0.001/Benign | −0.69172 | 0.09044 | 0.35 | 2 |
SNP2 | KCNJ11 | R27H | NA | Exon 1 | NA | 0.18/Tolerated | 0.006/Benign | −3.75303 | 0.67984 | 0.248 | NA |
SNP3 | KCNJ11 | V59M | NA | Exon 1 | NA | 0.12/Tolerated | 0.999/Probably damaging | −2.72126 | 0.43076 | 0.855 | NA |
SNP4 | KCNJ11 | I182V | NA | Exon 1 | NA | 0.98/Tolerated | 0.998/Probably damaging | −1.62168 | 0.20128 | 0.684 | NA |
SNP5 | KCNJ11 | R192H | NA | Exon 1 | NA | 0.01/Affect Protein Function | 1.000/Probably damaging | −6.9765 | 0.98159 | 0.816 | NA |
SNP6 | KCNJ11 | R201H | rs80356624 | Exon 1 | 11:17387490 | 0.00/Affect Protein Function | 1.000/Probably damaging | NA | NA | 0.981 | NA |
SNP7 | KCNJ11 | E227K | NA | Exon 1 | NA | 0.00/Affect Protein Function | 1.000/Probably damaging | −7.17583 | 0.98487 | 0.94 | NA |
SNP8 | KCNJ11 | L270V | rs1800467 | Exon 1 | 11:17387284 | 0.13/Tolerated | 0.003/Benign | −1.54301 | 0.18893 | 0.566 | 0.68 |
SNP9 | KCNJ11 | I337V | rs5215 | Exon 1 | 11:17387083 | 0.73/Tolerated | 0.000/Benign | −0.89045 | 0.10817 | 0.462 | 0.94 |
SNP10 | KCNJ11 | S385C | rs41282930 | NA | 11:17386938 | 0.02/Affect Protein Function | 0.380/Possibly damaging | NA | NA | 0.229 | NA |
SNP11 | ABCC8 | G7R | NA | Exon 1 | NA | 0.00/Affect Protein Function | 1.000/Probably damaging | NA | NA | 0.863 | NA |
SNP12 | ABCC8 | N24K | NA | Exon 1 | NA | 0.03/Affect Protein Function | 1.000/Probably damaging | NA | NA | 0.877 | NA |
SNP13 | ABCC8 | F27S | NA | Exon 1 | NA | 0.00/Affect Protein Function | 0.884/Probably damaging | NA | NA | 0.858 | NA |
SNP14 | ABCC8 | N72S | rs80356634 | Exon 2 | 11:17474961 | 0.12/Tolerated | 0.402/Possibly damaging | NA | NA | 0.802 | NA |
SNP15 | ABCC8 | R74W | NA | Exon 2 | NA | 0.00/Affect Protein Function | 1.000/Probably damaging | NA | NA | 0.904 | NA |
SNP16 | ABCC8 | A116P | NA | NA | NA | 0.12/Tolerated | 1.000/Probably damaging | NA | NA | 0.825 | NA |
SNP17 | ABCC8 | E128K | NA | Exon 3 | NA | 0.02/Affect Protein Function | 1.000/Probably damaging | NA | NA | 0.829 | NA |
SNP18 | ABCC8 | F132L | rs80356637 | Exon 3 | 11:17470119 | 0.16/Tolerated | 0.877/Possibly damaging | NA | NA | 0.847 | NA |
SNP19 | ABCC8 | V187D | NA | Exon 4 | NA | 0.01/Affect Protein Function | 0.042/Benign | NA | NA | 0.857 | NA |
SNP20 | ABCC8 | L213R | rs80356642 | Exon 5 | 11:17461767 | 0.41/Tolerated | 0.212/Possibly damaging | −3.12006 | 0.52998 | 0.786 | NA |
SNP21 | ABCC8 | E382K | rs80356651 | NA | 11:17453151 | 0.27/Tolerated | 0.392/Possibly damaging | −1.96296 | 0.26172 | 0.872 | NA |
SNP22 | ABCC8 | R495Q | NA | Exon 10 | NA | 0.00/Affect Protein Function | 1.000/Probably damaging | −8.28432 | 0.99496 | 0.906 | NA |
SNP23 | ABCC8 | E501K | NA | Exon 10 | NA | 0.00/Affect Protein Function | 1.000/Probably damaging | −2.39817 | 0.35392 | 0.948 | NA |
SNP24 | ABCC8 | L503P | NA | Exon 10 | NA | 0.00/Affect Protein Function | 1.000/Probably damaging | −4.69708 | 0.84515 | 0.964 | NA |
SNP25 | ABCC8 | F686S | NA | Exon 15 | NA | 0.01/Affect Protein Function | 0.998/Probably damaging | −4.1174 | 0.75351 | 0.909 | NA |
SNP26 | ABCC8 | G716V | rs72559723 | Exon 16 | 11:17427124 | 0.18/Tolerated | 1.000/Probably damaging | −8.97797 | 0.99747 | 0.974 | NA |
SNP27 | ABCC8 | K1336N | NA | NA | NA | 0.25/Tolerated | 0.016/Benign | −1.84974 | 0.24044 | 0.693 | NA |
SNP28 | ABCC8 | L1349Q | NA | Exon 33 | NA | 0.01/Affect Protein Function | 0.997/Probably damaging | −4.16681 | 0.76257 | 0.912 | NA |
SNP29 | ABCC8 | A1369S | rs757110 | Exon 33 | 11:17396930 | 0.51/Tolerated | 0.000/Benign | −0.85285 | 0.1046 | 0.323 | 0.87 |
SNP30 | ABCC8 | S1386F | NA | Exon 34 | NA | 0.00/Affect Protein Function | 1.000/Probably damaging | −4.60703 | 0.833 | 0.95 | NA |
SNP31 | ABCC8 | L1389P | NA | Exon 34 | NA | 0.00/Affect Protein Function | 0.993/Probably damaging | −4.93634 | 0.87395 | 0.886 | NA |
SNP32 | ABCC8 | R1420C | rs28938469 | Exon 35 | 11:17395659 | 0.00/Affect Protein Function | 1.000/Probably damaging | NA | NA | 0.863 | −1.19 |
SNP33 | ABCC8 | I1424V | rs80356653 | Exon 35 | 11:17395647 | 0.00/Affect Protein Function | 0.988/Probably damaging | −2.02622 | 0.27413 | 0.882 | NA |
SNP34 | ABCC8 | D1471H | NA | Exon 36 | NA | 0.00/Affect Protein Function | 0.994/Probably damaging | −4.60764 | 0.83308 | 0.913 | NA |
SNP35 | TCF7L2 | P179H | rs3197486 | NA | 10:113141236 | 0.00/Affect Protein Function | 1.000/Probably damaging | −5.62868 | 0.93268 | 0.879 | 0.01 |
SNP36 | TCF7L2 | K323N | rs2757884 | NA | 10:113151761 | 0.00/Affect Protein Function | 1.000/Probably damaging | −4.23841 | 0.77529 | 0.309 | −0.15 |