rsID Chromosome Chromosome Start Chromosome End Nucleotide Function Region Clinical
Significance
Desease Sift_Score Sift
Prediciton
PolyPhen2
Score
PolyPhen2
Prediciton
MAF Gene
rs4846051chr11185445611854457G > Acoding-synonsynonymous SNVnon-pathogenicnot_specified0NA0NA1MTHFR
rs1801131chr11185447511854476T > Gmissensenonsynonymous SNVnon-pathogenicMTHFR_deficiencyx2c_thermolabile_type0.18Tolerated0.462Possibly Damaging0.32MTHFR
rs1801133chr11185637711856378G > Amissensenonsynonymous SNVnon-pathogenicMTHFR_deficiencyx2c_thermolabile_type0.05Deleterious0.999Probably Damaging0.49MTHFR
rs140176911chr1115220522115220523C > TintronNAnon-pathogenicnot_specified0NA0NA0.09AMPD1
rs34526199chr1115222236115222237T > Amissensenonsynonymous SNVpathogenicMuscle_AMP_deaminase_deficiency0Deleterious1Probably Damaging0.05AMPD1
rs6683173chr1115231171115231172C > TintronNAnon-pathogenicnot_specified0NA0NA0.1AMPD1
rs61752479chr1115231253115231254G > Amissensenonsynonymous SNVpathogenicnot_provided0Deleterious1Probably Damaging0.13AMPD1
rs17602729chr1115236056115236057G > Aintron,nonsensestopgainpathogenicMuscle_AMP_deaminase_deficiency0NA0NA0.13AMPD1
rs7526063chr1236971997236971998C > TintronNAnon-pathogenicnot_provided0NA0NA0.14MTR
rs1770449chr1237038160237038161T > CintronNAnon-pathogenicnot_provided0NA0NA0.42MTR
rs1805087chr1237048499237048500A > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0.04Deleterious0.586Possibly Damaging0.31MTR
rs2229276chr1237054568237054569A > Gcoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.46MTR
rs12070777chr1237058743237058744C > Acoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.45MTR
rs1131449chr1237058827237058828C > Gcoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0MTR
rs1131449chr1237058827237058828C > Tcoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.59MTR
rs3820571chr1237060432237060433G > TintronNAnon-pathogenicnot_provided0NA0NA0.9MTR
rs12022937chr1237060849237060850T > CintronNAnon-pathogenicnot_provided0NA0NA0.4MTR
rs72716536chr578692347869235T > Cnear-gene-5,untranslated-5NAnon-pathogenicnot_provided0NA0NA0.33MTRR
rs1532268chr578781787878179C > Tmissensenonsynonymous SNVnon-pathogenicnot_provided0.3Tolerated0Benign0.36MTRR
rs161870chr578781917878192T > Ccoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.39MTRR
rs2303080chr578784237878424T > Amissensenonsynonymous SNVnon-pathogenicnot_provided0.59Tolerated0.001Benign0.08MTRR
rs162036chr578859587885959A > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0.35Tolerated0.281Benign0.39MTRR
rs2287779chr578892157889216G > Acoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.16MTRR
rs2287780chr578893037889304C > Tmissensenonsynonymous SNVnon-pathogenicnot_provided0.04Deleterious0.999Probably Damaging0.16MTRR
rs16879334chr578915057891506C > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0Deleterious0.997Probably Damaging0.16MTRR
rs113005255chr578915457891546G > AintronNAnon-pathogenicnot_provided0NA0NA0.03MTRR
rs35890938chr578929327892933A > Gcoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.03MTRR
rs34172797chr578930047893005C > Tcoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.03MTRR
rs2303082chr578959847895985A > GintronNAnon-pathogenicnot_provided0NA0NA0.08MTRR
rs6874544chr578970607897061T > Ccoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.03MTRR
rs10380chr578971907897191C > Tmissensenonsynonymous SNVnon-pathogenicnot_provided0.04Deleterious0.001Benign0.32MTRR
rs12347chr578972827897283G > Acoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.38MTRR
rs1802059chr578973187897319G > Acoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.36MTRR
rs2032582chr78716061787160618A > Tmissensenonsynonymous SNVnon-pathogenicnot_specified00.0300.0010ABCB1
rs2032582chr78716061787160618A > Cmissensenonsynonymous SNVnon-pathogenicnot_specified01000ABCB1
rs35477493chr156529550465295505C > Tcoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.04MTFMT
rs34636936chr156529726065297261C > Tcoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.03MTFMT
rs2946655chr156532193765321938A > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0.31Tolerated0Benign0.15MTFMT
rs2227289chr1983673588367359G > Ccoding-synonsynonymous SNVnon-pathogenicnot_provided0Deleterious0NA0.33CD320
rs250511chr1983675038367504T > AintronNAnon-pathogenicnot_provided0NA0NA0.14CD320
rs2336573chr1983677088367709C > Tmissensenonsynonymous SNVnon-pathogenicnot_provided0.06Tolerated0.589Possibly Damaging0.33CD320
rs2232784chr1983687578368758G > Acoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.33CD320
rs2232783chr1983687938368794C > Acoding-synonsynonymous SNVnon-pathogenicnot_provided0NA0NA0.33CD320
rs2232780chr1983698958369896A > CintronNAnon-pathogenicnot_provided0NA0NA0.33CD320
rs2232776chr1983730228373023C > GintronNAnon-pathogenicnot_provided0NA0NA0.33CD320
rs2232775chr1983731518373152T > Cmissensenonsynonymous SNVnon-pathogenicnot_provided1Tolerated0Benign0.45CD320
rs2232773chr1983731758373176C > Tuntranslated-5NAnon-pathogenicnot_provided0NA0NA0.33CD320
rs2228613chr191026559210265593G > Tcoding-synon,missensesynonymous SNVnon-pathogenicnot_provided0NA0NA0.093DNMT1
rs2228613chr191026559210265593G > Ccoding-synon,missensenonsynonymous SNVnon-pathogenicnot_provided0.01Deleterious0.966Probably Damaging0DNMT1
rs2228612chr191027337110273372T > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0.31Tolerated0.001Benign0DNMT1
rs2228612chr191027337110273372T > Cmissensenonsynonymous SNVnon-pathogenicnot_provided0.31Tolerated0Benign0.39DNMT1
rs2228612chr191027337110273372T > Amissensenonsynonymous SNVnon-pathogenicnot_provided0.06Tolerated0.091Benign0DNMT1
rs1127354chr2031938413193842C > Aintron,ncRNA,missensenonsynonymous SNVpathogenicInosine_triphosphatase_deficiency0.32Tolerated0.791Possibly Damaging0.13ITPA
rs1127354chr2031938413193842C > Gintron,ncRNA,missensenonsynonymous SNVpathogenicInosine_triphosphatase_deficiency0.45Tolerated0.414Benign0ITPA
rs1127354chr2031938413193842C > Tintron,ncRNA,missensenonsynonymous SNVpathogenicInosine_triphosphatase_deficiency0.45Tolerated0.303Benign0ITPA
rs7270101chr2031938923193893A > CintronNApathogenicInosine_triphosphatase_deficiency0NA0NA0.13ITPA
rs1801181chr214448061544480616G > Acoding-synonsynonymous SNVnon-pathogenicnot_specified0NA0NA0.58CBS
rs75616587chr214448319944483200G > AintronNAnon-pathogenicnot_provided0NA0NA0.05CBS
rs234706chr214448534944485350G > Acoding-synonsynonymous SNVnon-pathogenicnot_specified0NA0NA0.34CBS
rs34040148chr214448863044488631T > Gmissensenonsynonymous SNVnon-pathogenicnot_provided0.18Tolerated0.556Possibly Damaging0.05CBS
rs79622089chr214755688147556882G > Aintron,untranslated-3NAnon-pathogenicnot_specified0Deleterious0.001Benign0.095FTCD
rs1047179chr214755847247558473G > Ccoding-synonsynonymous SNVnon-pathogenicnot_specified0NA0Benign0.63FTCD
rs61735841chr214755855147558552G > Amissensenonsynonymous SNVnon-pathogenicnot_specified0.17Tolerated0.281Benign0.1FTCD
rs61729391chr214757184447571845C > Tcoding-synonsynonymous SNVnon-pathogenicnot_specified0NA0NA0.098FTCD
rs2277820chr214757537147575372C > TintronNAnon-pathogenicnot_specified0NA0NA0.8FTCD
rs1801198chr223101160931011610G > Cmissensenonsynonymous SNVnon-pathogenicTCN2_POLYMORPHISM0.65Tolerated0Benign0.77TCN2