Folate PolyPHEN-SIFT Prediction Data


rs IDChromosomeStartEndNucleotideFunctionRegionClinical SignificanceDiseaseSIFT ScoreSIFT PredictionPolyPHEN ScorePolyPhen PredictionMAFGene Symbol
rs2032582chr 78716061787160618A > Tmissensenonsynonymous SNVnon-pathogenicnot_specified,not_specified0.03Deleterious0.001Benign0.054ABCB1
rs2032582chr 78716061787160618A > Cmissensenonsynonymous SNVnon-pathogenicnot_specified,not_specified1Tolerated0Benign0.97ABCB1
rs140176911chr 1115220522115220523C > Tintronnon-pathogenicnot_specified000.09AMPD1
rs34526199chr 1115222236115222237T > Amissensenonsynonymous SNVpathogenicMuscle_AMP_deaminase_deficiency0Deleterious1Probably Damaging0.05AMPD1
rs6683173chr 1115231171115231172C > Tintronnon-pathogenicnot_specified000.1AMPD1
rs61752479chr 1115231253115231254G > Amissensenonsynonymous SNVpathogenicnot_provided0Deleterious1Probably Damaging0.13AMPD1
rs17602729chr 1115236056115236057G > Aintron,nonsensestopgainpathogenicMuscle_AMP_deaminase_deficiency000.13AMPD1
rs2227289chr 1983673588367359G > Ccoding-synonsynonymous SNVnon-pathogenicnot_provided0Deleterious00.33CD320
rs250511chr 1983675038367504T > Aintronnon-pathogenicnot_provided000.14CD320
rs2336573chr 1983677088367709C > Tmissensenonsynonymous SNVnon-pathogenicnot_provided0.06Tolerated0.589Possibly Damaging0.33CD320
rs2232784chr 1983687578368758G > Acoding-synonsynonymous SNVnon-pathogenicnot_provided000.33CD320
rs2232783chr 1983687938368794C > Acoding-synonsynonymous SNVnon-pathogenicnot_provided000.33CD320
rs2232780chr 1983698958369896A > Cintronnon-pathogenicnot_provided000.33CD320
rs2232776chr 1983730228373023C > Gintronnon-pathogenicnot_provided000.33CD320
rs2232775chr 1983731518373152T > Cmissensenonsynonymous SNVnon-pathogenicnot_provided1Tolerated0Benign0.45CD320
rs2232773chr 1983731758373176C > Tuntranslated-5non-pathogenicnot_provided000.33CD320
rs1801181chr 214448061544480616G > Acoding-synonsynonymous SNVnon-pathogenicnot_specified000.58CBS
rs75616587chr 214448319944483200G > Aintronnon-pathogenicnot_provided000.05CBS
rs234706chr 214448534944485350G > Acoding-synonsynonymous SNVnon-pathogenicnot_specified000.34CBS
rs34040148chr 214448863044488631T > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0.18Tolerated0.556Possibly Damaging0.05CBS
rs2228613chr 191026559210265593G > Tcoding-synon,misynonymous SNVnon-pathogenicnot_provided000.093DNMT1
rs2228613chr 191026559210265593G > Ccoding-synon,minonsynonymous SNVnon-pathogenicnot_provided0.01Deleterious0.966Probably Damaging0DNMT1
rs2228612chr 191027337110273372T > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0.31Tolerated0.001Benign0DNMT1
rs2228612chr 191027337110273372T > Cmissensenonsynonymous SNVnon-pathogenicnot_provided0.31Tolerated0Benign0.39DNMT1
rs2228612chr 191027337110273372T > Amissensenonsynonymous SNVnon-pathogenicnot_provided0.06Tolerated0.091Benign0DNMT1
rs79622089chr 214755688147556882G > Aintron,untranslnon-pathogenicnot_specified0Deleterious0.001Benign0.095FTCD
rs1047179chr 214755847247558473G > Ccoding-synonsynonymous SNVnon-pathogenicnot_specified00Benign0.63FTCD
rs61735841chr 214755855147558552G > Amissensenonsynonymous SNVnon-pathogenicnot_specified0.17Tolerated0.281Benign0.1FTCD
rs61729391chr 214757184447571845C > Tcoding-synonsynonymous SNVnon-pathogenicnot_specified000.098FTCD
rs2277820chr 214757537147575372C > Tintronnon-pathogenicnot_specified000.8FTCD
rs35477493chr 156529550465295505C > Tcoding-synonsynonymous SNVnon-pathogenicnot_provided000.04MTFMT
rs34636936chr 156529726065297261C > Tcoding-synonsynonymous SNVnon-pathogenicnot_provided000.03MTFMT
rs2946655chr 156532193765321938A > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0.31Tolerated0Benign0.15MTFMT
rs1127354chr 2031938413193842C > Aintron,ncRNA,minonsynonymous SNVpathogenicInosine_triphosphatase_deficiency0.32Tolerated0.791Possibly Damaging0.13ITPA
rs1127354chr 2031938413193842C > Gintron,ncRNA,minonsynonymous SNVpathogenicInosine_triphosphatase_deficiency0.45Tolerated0.414Benign0ITPA
rs1127354chr 2031938413193842C > Tintron,ncRNA,minonsynonymous SNVpathogenicInosine_triphosphatase_deficiency0.45Tolerated0.303Benign0ITPA
rs7270101chr 2031938923193893A > CintronpathogenicInosine_triphosphatase_deficiency000.13ITPA
rs4846051chr 11185445611854457G > Acoding-synonsynonymous SNVnon-pathogenicnot_specified001MTHFR
rs1801131chr 11185447511854476T > Gmissensenonsynonymous SNVnon-pathogenicMTHFR_deficiencyx2c_thermolabile_type0.18Tolerated0.462Possibly Damaging0.32MTHFR
rs1801133chr 11185637711856378G > Amissensenonsynonymous SNVnon-pathogenicMTHFR_deficiencyx2c_thermolabile_type0.05Deleterious0.999Probably Damaging0.49MTHFR
rs1131449chr 1237058827237058828C > Gcoding-synonsynonymous SNVnon-pathogenicnot_provided000MTR
rs1131449chr 1237058827237058828C > Tcoding-synonsynonymous SNVnon-pathogenicnot_provided000.59MTR
rs12022937chr 1237060849237060850T > Cintronnon-pathogenicnot_provided000.4MTR
rs7526063chr 1236971997236971998C > Tintronnon-pathogenicnot_provided000.14MTR
rs1770449chr 1237038160237038161T > Cintronnon-pathogenicnot_provided000.42MTR
rs1805087chr 1237048499237048500A > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0.04Deleterious0.586Possibly Damaging0.31MTR
rs2229276chr 1237054568237054569A > Gcoding-synonsynonymous SNVnon-pathogenicnot_provided000.46MTR
rs12070777chr 1237058743237058744C > Acoding-synonsynonymous SNVnon-pathogenicnot_provided000.45MTR
rs3820571chr 1237060432237060433G > Tintronnon-pathogenicnot_provided000.9MTR
rs72716536chr 578692347869235T > Cnear-gene-5,untnon-pathogenicnot_provided000.33MTRR