Riboflavin PolyPHEN-SIFT Prediction Data
T Tolerated; P Possibly Damaging; D Deleterious; B Benign
rsID | Chromosome | Start | End | Nucleotide | Function | Region | Clinical Significance | Disease | SIFT Score | SIFT Prediction | PolyPHEN Score | PolyPhen Prediction | MAF | Gene Symbol |
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rs2266782 | chr1 | 171076965 | 171076966 | G > A | missense | nonsynonymous SNV | Pathogenic | Trimethylaminuria\x2c_mild|Trimethylaminuria|Trimethylaminuria|not_specified|Trimethylaminuria | 0.562 | Tolerated | 0.481 | Possible Damaging | 0.797524,0.202476, | FMO3 |
rs2266780 | chr1 | 171083241 | 171083242 | A > G | missense | nonsynonymous SNV | Pathogenic | Trimethylaminuria\x2c_mild|Trimethylaminuria|not_specified|Trimethylaminuria | 0.199 | Tolerated | 1 | Deleterious | 0.097644,0.902356, | FMO3 |
rs1800556 | chr12 | 121175677 | 121175678 | C > T | missense | nonsynonymous SNV | Pathogenic | Deficiency_of_butyryl-CoA_dehydrogenase|not_provided | 0.027 | Deleterious | 0.994 | Deleterious | 0.076677,0.923323, | ACADS |
rs34695403 | chr15 | 40699839 | 40699840 | C > G | intron,missense | nonsynonymous SNV | Pathogenic | Isovaleryl-CoA_dehydrogenase_deficiency | 0 | Deleterious | 1 | Deleterious | 0.428115,0.571885, | IVD |
rs34695403 | chr15 | 40699839 | 40699840 | C > T | intron,missense | nonsynonymous SNV | Pathogenic | Isovaleryl-CoA_dehydrogenase_deficiency | 0 | Deleterious | 1 | Deleterious | 0.428115,0.571885, | IVD |
rs28934585 | chr17 | 7123837 | 7123838 | C > T | intron,near-gene-5,missense,untranslated-5 | nonsynonymous SNV | Pathogenic | Very_long_chain_acyl-CoA_dehydrogenase_deficiency|Very_long_chain_acyl-CoA_dehydrogenase_deficiency|not_specified|not_provided | 0.047 | Deleterious | 0.001 | Benign | 0.026957,0.973043, | ACADVL |
rs76947760 | chr20 | 744166 | 744167 | A > T | missense | nonsynonymous SNV | Pathogenic | Brown-Vialetto-Van_Laere_syndrome_1 | 0.077 | Tolerated | 0.985 | Deleterious | 0.169928,0.830072, | SLC52A3 |
rs450046 | chr22 | 18901003 | 18901004 | C > T | missense | nonsynonymous SNV | Pathogenic | Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided | 0.455 | Tolerated | 0 | Benign | 0.974641,0.025359, | PRODH |