rsID | Chromosome | Start | End | Nucleotide | Function | Region | Clinical Significance | Disease | SIFT Score | SIFT Prediction | PolyPhen Score | PolyPhen Prediction | MAF | Gene Symbol |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs1047781 | chr19 | 49206630 | 49206631 | A > T | exonic | nonsynonymous SNV | non-pathogenic | SECRETOR/NONSECRETOR_POLYMORPHISMx2c_JAPANESE_TYPE | 0 | Deleterious | 0.978 | Probabily Damaging | 0.38 | FUT2 |
rs10380 | chr5 | 7897190 | 7897191 | C > T | exonic | nonsynonymous SNV | non-pathogenic | not_provided | 0.04 | Deleterious | 0.001 | Benign | 0.32 | MTRR |
rs1131449 | chr1 | 237058827 | 237058828 | C > G | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0 | MTR | ||
rs1131449 | chr1 | 237058827 | 237058828 | C > T | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.59 | MTR | ||
rs113005255 | chr5 | 7891545 | 7891546 | G > A | intronic | non-pathogenic | not_provided | 0 | 0 | 0.03 | MTRR | |||
rs1141321 | chr6 | 49412432 | 49412433 | C > T | exonic | nonsynonymous SNV | non-pathogenic | not_specified | 0.13 | Tolerated | 0.225 | Benign | 0.37 | MUT |
rs1141321 | chr6 | 49412432 | 49412433 | C > G | exonic | nonsynonymous SNV | non-pathogenic | not_specified | 0.26 | Tolerated | 0.155 | Benign | 0 | MUT |
rs12070777 | chr1 | 237058743 | 237058744 | C > A | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.45 | MTR | ||
rs12022937 | chr1 | 237060849 | 237060850 | T > C | intronic | non-pathogenic | not_provided | 0 | 0 | 0.4 | MTR | |||
rs11721553 | chr4 | 146572226 | 146572227 | G > A | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.1 | MMAA | ||
rs12347 | chr5 | 7897282 | 7897283 | G > A | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.38 | MTRR | ||
rs12648 | chr6 | 70407464 | 70407465 | A > T | exonic | nonsynonymous SNV | non-pathogenic | not_provided | 0.94 | Tolerated | 0.013 | Benign | 0.56 | LMBRD1 |
rs16832550 | chr1 | 45974775 | 45974776 | C > T | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.04 | MMACHC | ||
rs1532268 | chr5 | 7878178 | 7878179 | C > T | exonic | nonsynonymous SNV | non-pathogenic | not_provided | 0.3 | Tolerated | 0 | Benign | 0.36 | MTRR |
rs161870 | chr5 | 7878191 | 7878192 | T > C | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.39 | MTRR | ||
rs162036 | chr5 | 7885958 | 7885959 | A > G | exonic | nonsynonymous SNV | non-pathogenic | not_provided | 0.35 | Tolerated | 0.281 | Benign | 0.39 | MTRR |
rs16879334 | chr5 | 7891505 | 7891506 | C > G | exonic | nonsynonymous SNV | non-pathogenic | not_provided | 0 | Deleterious | 0.997 | Probabily Damaging | 0.16 | MTRR |
rs1770449 | chr1 | 237038160 | 237038161 | T > C | intronic | non-pathogenic | not_provided | 0 | 0 | 0.42 | MTR | |||
rs1805087 | chr1 | 237048499 | 237048500 | A > G | exonic | nonsynonymous SNV | non-pathogenic | not_provided | 0.04 | Deleterious | 0.586 | Possibly Damaging | 0.31 | MTR |
rs1802059 | chr5 | 7897318 | 7897319 | G > A | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.36 | MTRR | ||
rs2275276 | chr1 | 45973927 | 45973928 | G > A | exonic | synonymous SNV | non-pathogenic | not_specified | 0 | 0 | 0.58 | MMACHC | ||
rs2229276 | chr1 | 237054568 | 237054569 | A > G | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.46 | MTR | ||
rs2270655 | chr4 | 146576417 | 146576418 | G > C | exonic | nonsynonymous SNV | non-pathogenic | not_specified | 0.18 | Tolerated | 0.001 | Benign | 0.1 | MMAA |
rs2303080 | chr5 | 7878423 | 7878424 | T > A | exonic | nonsynonymous SNV | non-pathogenic | not_provided | 0.59 | Tolerated | 0.001 | Benign | 0.08 | MTRR |
rs2287779 | chr5 | 7889215 | 7889216 | G > A | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.16 | MTRR | ||
rs2287780 | chr5 | 7889303 | 7889304 | C > T | exonic | nonsynonymous SNV | non-pathogenic | not_provided | 0.04 | Deleterious | 0.999 | Probabily Damaging | 0.16 | MTRR |
rs2303082 | chr5 | 7895984 | 7895985 | A > G | intronic | non-pathogenic | not_provided | 0 | 0 | 0.08 | MTRR | |||
rs2229385 | chr6 | 49415447 | 49415448 | C > T | exonic | nonsynonymous SNV | non-pathogenic | not_specified | 0.09 | Tolerated | 0.003 | Benign | 0.12 | MUT |
rs2229384 | chr6 | 49425520 | 49425521 | C > T | exonic | synonymous SNV | non-pathogenic | not_specified | 0 | 0 | 0.62 | MUT | ||
rs3820571 | chr1 | 237060432 | 237060433 | G > T | intronic | non-pathogenic | not_provided | 0 | 0 | 0.9 | MTR | |||
rs35890938 | chr5 | 7892932 | 7892933 | A > G | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.03 | MTRR | ||
rs34172797 | chr5 | 7893004 | 7893005 | C > T | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.03 | MTRR | ||
rs4835011 | chr4 | 146560235 | 146560236 | A > G | UTR5 | non-pathogenic | not_provided | 0 | 0 | 0.09 | MMAA | |||
rs6662272 | chr1 | 45973123 | 45973124 | G > C | exonic | nonsynonymous SNV | non-pathogenic | not_provided | 0.01 | Deleterious | 1 | Probabily Damaging | 0.084 | MMACHC |
rs62000414 | chr12 | 110006576 | 110006577 | A > G | exonic | synonymous SNV | non-pathogenic | not_specified | 0 | 0 | 0.13 | MMAB | ||
rs601338 | chr19 | 49206673 | 49206674 | G > A | exonic | stopgain | non-pathogenic | SECRETOR/NONSECRETOR_POLYMORPHISM | 1 | Tolerated | 0 | 0.5 | FUT2 | |
rs72716536 | chr5 | 7869234 | 7869235 | T > C | UTR5 | non-pathogenic | not_provided | 0 | 0 | 0.33 | MTRR | |||
rs6874544 | chr5 | 7897060 | 7897061 | T > C | exonic | synonymous SNV | non-pathogenic | not_provided | 0 | 0 | 0.03 | MTRR | ||
rs7526063 | chr1 | 236971997 | 236971998 | C > T | intronic | non-pathogenic | not_provided | 0 | 0 | 0.14 | MTR | |||
rs8589 | chr6 | 49403281 | 49403282 | T > C | exonic | nonsynonymous SNV | non-pathogenic | not_specified | 1 | Tolerated | 0 | Benign | 0.62 | MUT |
rs9593 | chr12 | 109994869 | 109994870 | A > T | exonic | nonsynonymous SNV | non-pathogenic | not_specified | 1 | Tolerated | 0 | Benign | 0.72 | MMAB |