Folate Missence Mutation Data


Gene SymbolChromosomeStartEndrs IDStrandNCBI refObservedFunctionSubmitter CountSubmitterFrequency CountAllele Frequency
CUBN chr 101687707916877080rs7898873+GC/Gmissense161000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJ20.076828
CUBN chr 101712638217126383rs7905349+GA/Gmissense151000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERL20.091189
DHFR chr 57995071479950715rs144776112+GC/Gmissense,untran21000GENOMES,EXOME_CHIP,20.16483
DHFR chr 57995071779950718rs148550291+GC/Gmissense,untran21000GENOMES,EXOME_CHIP,20.161616
DHFR chr 57995072679950727rs1574197-GC/Gmissense,untran31000GENOMES,EXOME_CHIP,TSC-CSHL,20.966942
DHFR chr 57995078079950781rs1650697-AC/Tmissense,untran181000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,EGP_SNPS,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HGSV,HUMANGENOME_JCVI20.786587
DHFR chr 57995072379950724rs2001675-GC/Gmissense,untran51000GENOMES,EXOME_CHIP,SSAHASNP,SSMP,TSC-CSHL,20.823691
DMGDH chr 57832674978326750rs1805073-GC/Gmissense221000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHI20.676531
DMGDH chr 57832435178324352rs1805074-AC/Tmissense231000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHI20.326251
DMGDH chr 57834028578340286rs532964-AC/Tmissense281000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGBAS30.580662
DNMT1 chr 191029118010291181rs16999593+TC/Tmissense121000GENOMES,AFFY,BGI,CANCER-GENOME,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,SNP500CANC20.031919
DNMT1 chr 191027337110273372rs2228612-TA/C/Gmissense181000GENOMES,BGI,BUSHMAN,CANCER-GENOME,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,G40.711769
DNMT3A chr 22547092825470929rs34191084-CA/Gmissense1APPLERA_GI,20.014706
DNMT3A chr 22546324625463247rs34843713-CA/C/Gmissense2APPLERA_GI,NHLBI-ESP,20.013513
FOLH1 chr 114920477849204779rs116795343+CC/Tmissense,untran4EXOME_CHIP,GMI,NHLBI-ESP,SSMP,20.974443
FOLH1 chr 114922761949227620rs202676-AC/Tmissense,untran221000GENOMES,ABI,AFFY,BGI,BUSHMAN,CLINSEQ_SNP,CSHL-HAPMAP,EXOME_CHIP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KR20.34328
FOLH1 chr 114918627349186274rs61886492+GA/Gmissense101000GENOMES,BCMHGSC_JDW,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,GENETICA_UNIFESP,GMI,NHLBI-ESP,SEATTLESEQ,SSM20.038302
FOLH1 chr 114920826649208267rs75940285+GA/Gmissense,untran4CLINSEQ_SNP,EXOME_CHIP,GMI,MPI_MOLGEN,20.123
FPGS chr 9130572045130572046rs200893897+GA/Gmissense31000GENOMES,EXOME_CHIP,NHLBI-ESP,20.01056
FPGS chr 9130570893130570894rs2230270+AA/Gmissense2NHLBI-ESP,WICVAR,20.978261
FPGS chr 9130575701130575702rs34354111+GC/Gmissense3APPLERA_GI,ILLUMINA,PERLEGEN,20.039474
FTCD chr 214757180947571810rs116089237+TA/Tmissense41000GENOMES,EXOME_CHIP,NHLBI-ESP,TISHKOFF,20.017857
FTCD chr 214757187947571880rs61729373+CC/Tmissense3CORNELL,EXOME_CHIP,NHLBI-ESP,20.954545
FTCD chr 214757288647572887rs61735836+CC/Tmissense101000GENOMES,BUSHMAN,CORNELL,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF,20.925513
FTCD chr 214755845547558456rs61735839+CC/Tmissense3CORNELL,EXOME_CHIP,NHLBI-ESP,20.978261
FTCD chr 214755850047558501rs61735840+GA/Gmissense3CORNELL,EXOME_CHIP,NHLBI-ESP,20.018519
FTCD chr 214755855147558552rs61735841+GA/Gmissense81000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EXOME_CHIP,NHLBI-ESP,SSMP,TISHKOFF,20.047994
GART chr 213488213034882131rs114500396+TG/Tmissense41000GENOMES,EXOME_CHIP,ILLUMINA,NHLBI-ESP,20.015346
GART chr 213489284334892844rs35927582-TA/Gmissense61000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,20.989402
GART chr 213488972234889723rs59920090+GA/Gmissense81000GENOMES,CORNELL,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,20.024691
GART chr 213489711234897113rs8788-CA/G/Tmissense321000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,40.662801
GART chr 213488361734883618rs8971-TA/Gmissense241000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,E20.8349
GART chr 213487653734876538rs9636610+CC/Tmissense61000GENOMES,AFFY,EXOME_CHIP,GMI,SC_SNP,SSMP,20.988012
GGH chr 86395123663951237rs11545077-CA/Gmissense231000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,E40.153976
GGH chr 86393876363938764rs11545078-GC/Tmissense201000GENOMES,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME20.918898
GGH chr 86395131163951312rs1800909-AC/Tmissense231000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMB20.231009
GIF chr 115961285859612859rs35211634+TC/Tmissense141000GENOMES,APPLERA_GI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,OMIM-20.098385
GIF chr 115960475359604754rs35867471+TC/Tmissense71000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,TISHKOFF,20.027793
MMAB chr 3129155669129155670rs10342-CA/G/Tintron,missense171000GENOMES,BUSHMAN,CANCER-GENOME,CGAP-GAI,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,HGSV,ILLUMINA,KRIBB_YJKIM40.070367
MMAB chr 3129155450129155451rs140693-CA/Gintron,missense191000GENOMES,ABI,AFFY,CLINSEQ_SNP,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,LD20.061154
MMAB chr 3129155462129155463rs2307289-AC/Tintron,missense151000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP20.04407
MTFMT chr 156532193765321938rs2946655-AC/Tmissense121000GENOMES,ABI,CORNELL,ENSEMBL,EXOME_CHIP,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP,SC_JCM,SSAHASNP,S20.057532
MTHFD1 chr 146491616464916165rs10813+CC/Tmissense121000GENOMES,AFFY,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SSM20.970724
MTHFD1 chr 146491618764916188rs17857382+CC/Tmissense101000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,ILLUMINA,MGC_GENOME_DIFF,NHLBI-ESP,SEATTLE20.970676
MTHFD1 chr 146488237964882380rs1950902-AC/Tmissense331000GENOMES,AFFX,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOM30.826803
MTHFD1 chr 146488470664884707rs201524044+AA/Cmissense2CLINSEQ_SNP,EXOME_CHIP,20.8805
MTHFD1 chr 146490884464908845rs2236225-GC/Tmissense291000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,EXO30.641143
MTHFD1L chr 6151336788151336789rs35829704-CA/Gmissense1APPLERA_GI,20.017857
MTHFD1L chr 6151270230151270231rs61748674+GA/Gmissense61000GENOMES,CANCER-GENOME,CLINSEQ_SNP,EXOME_CHIP,NHLBI-ESP,TISHKOFF,20.011523
MTHFD2 chr 27443840574438406rs183389698+AA/GncRNA,missense31000GENOMES,EXOME_CHIP,NHLBI-ESP,20.980257
MTHFR chr 11184806711848068rs1537514-GC/Gmissense,untran131000GENOMES,ABI,CLINSEQ_SNP,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SI_EXO,SNP500CANCER,SSMP,TISHKOFF20.871519
MTHFR chr 11185447511854476rs1801131-TA/Cmissense251000GENOMES,AFFY,APPLERA_GI,BCMHGSC_JDW,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,EXO40.722351
MTHFR chr 11185637711856378rs1801133-GC/Tmissense331000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE20.719393
MTHFR chr 11185092611850927rs2274976-CA/Gmissense171000GENOMES,AFFY,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,GMI,ILLUMINA,IMCJ-GDT,KRIBB_YJ20.050935
MTHFR chr 11185074911850750rs35737219+GA/Gmissense91000GENOMES,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,20.017006
MTHFR chr 11184744811847449rs3737967-GC/Tmissense,untran61000GENOMES,CLINSEQ_SNP,GMI,ILLUMINA,SSMP,YUSUKE,20.94897
MTHFR chr 11185447311854474rs72552099-TA/Cmissense1PHARMGKB_PPII,20.67314
MTHFR chr 11184944611849447rs868014-AC/Tmissense,untran221000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,E20.945596
MTHFS chr 158013755980137560rs8923-TA/GncRNA,missense231000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCM_SSAHASNP,CGAP-GAI,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,HG20.928826
MTR chr 1237048499237048500rs1805087+AA/Gmissense261000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,ENSEMBL,20.786029
MTR chr 1236990140236990141rs2229274+GA/Gmissense71000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,WICVAR,20.019348
MTR chr 1237058742237058743rs61736326+GA/Gmissense71000GENOMES,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,20.017925
MTR chr 1236966877236966878rs61736442+CC/Tmissense1CORNELL,20.987179
MTR chr 1237060371237060372rs61739582+AA/Gmissense81000GENOMES,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF,20.980419
MTRR chr 578859067885907rs10064631+CC/Gmissense121000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,SEA20.947887
MTRR chr 578971907897191rs10380+CC/Tmissense251000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGSV,ILLUM20.811339
MTRR chr 578781787878179rs1532268-CA/Gmissense271000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,ENSEMBL20.295599
MTRR chr 578859587885959rs162036+AA/Gmissense231000GENOMES,ABI,AFFY,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMAN20.774035
MTRR chr 578915057891506rs16879334+CC/Gmissense111000GENOMES,AFFY,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,20.9567
MTRR chr 578893037889304rs2287780+CC/Tmissense161000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,20.95005
MTRR chr 578784237878424rs2303080+TA/Tmissense131000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SEA20.03061
SARDH chr 9136597581136597582rs146886270+TC/Tmissense41000GENOMES,EXOME_CHIP,NHLBI-ESP,TISHKOFF,20.010702
SARDH chr 9136559459136559460rs2073817-CA/Gmissense191000GENOMES,APPLERA_GI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EXOME_CHIP,GMI,HGBASE,ILLUMI20.36085
SARDH chr 9136582481136582482rs35218200+CA/Cmissense91000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF,20.015637
SARDH chr 9136599231136599232rs35559818+CA/Cmissense81000GENOMES,APPLERA_GI,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,TISHKOFF,20.017533
SARDH chr 9136535745136535746rs61685718+CC/Tmissense71000GENOMES,CORNELL,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,SEATTLESEQ,20.987319
SARDH chr 9136555628136555629rs886016-TA/Gmissense271000GENOMES,ABI,APPLERA_GI,BCM_SSAHASNP,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGBA20.469593
SHMT1 chr 171823209518232096rs1979277+GA/Gmissense271000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHI20.281109
SHMT2 chr 125762470057624701rs73338162+CC/TncRNA,missense91000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,20.970348
SLC19A1 chr 214695779346957794rs1051266-TA/Gmissense271000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GEN20.517813
SLC19A1 chr 214695073746950738rs199761250+TC/Tmissense11000GENOMES,20.016988
SLC19A1 chr 214693567446935675rs35786590-GC/Tintron,missense3APPLERA_GI,ILLUMINA,PERLEGEN,20.928571
SLC19A1 chr 214693594146935942rs7278825+GA/Gintron,missense91000GENOMES,BCM_SSAHASNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_PMT,SEATTLESEQ,SSMP,TISHKOFF,20.012385
SLC25A32 chr 8104427358104427359rs3134295+AA/CncRNA,missense,251000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HG20.53701
SLC25A32 chr 8104427540104427541rs3134296+CC/TncRNA,missense,231000GENOMES,ABI,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI20.817443
SLC46A1 chr 172673238526732386rs201076728+CC/Tmissense3CLINSEQ_SNP,EXOME_CHIP,NHLBI-ESP,20.989
SLC46A1 chr 172673294326732944rs41297071-CC/G/Tmissense3EXOME_CHIP,NHLBI-ESP,RSG_UW,30.010526
TCN1 chr 115962337759623378rs34324219+CA/Cmissense121000GENOMES,APPLERA_GI,BCM-HGSC-SUB,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERL20.085682
TCN1 chr 115963153459631535rs34528912+CC/Tmissense71000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,20.971403
TCN2 chr 223101897431018975rs1131603+TC/Tmissense111000GENOMES,AFFY,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,SEATTLESEQ,SEQ20.03352
TCN2 chr 223101337331013374rs117458738+CC/Tmissense51000GENOMES,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SSMP,20.989991
TCN2 chr 223101160931011610rs1801198+GC/Gmissense331000GENOMES,ABI,APPLERA_GI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HA20.609673
TCN2 chr 223101134931011350rs35838082+CC/Tmissense141000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,NH20.924748
TCN2 chr 223100886631008867rs35915865+TC/Tmissense91000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SI_EXO,SSMP,20.010809
TCN2 chr 223101904331019044rs4820889+GA/Gmissense161000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_S20.055431
TCN2 chr 223100685931006860rs9606756+AA/Gmissense201000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGSV,ILLUM20.884863
TCN2 chr 223101341831013419rs9621049+CC/Tmissense161000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KR20.882287
TYMS chr 18662214662215rs11540152+TC/Tmissense3CGAP-GAI,ILLUMINA,KRIBB_YJKIM,20.087209
TYMS chr 18658063658064rs2853533+GC/Gintron,missense151000GENOMES,BGI,BUSHMAN,CGAP-GAI,ENSEMBL,EXOME_CHIP,GMI,HGSV,ILLUMINA,MGC_GENOME_DIFF,NHLBI-ESP,SC_J20.316397