Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
MTHFD1L | chr 6 | 151336738 | 151336739 | rs509474 | - | C | C/G | coding-synon | 29 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CANCER-GENOME,CLINSEQ_SNP,COMPLET | 2 | 0.572312 |
MTHFD2L | chr 4 | 75065619 | 75065620 | rs200740046 | - | A | G/T | coding-synon | 2 | CLINSEQ_SNP,ILLUMINA, | 2 | 0.0595
|
MTHFR | chr 1 | 11854895 | 11854896 | rs2066462 | - | G | C/T | coding-synon | 15 | 1000GENOMES,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,HGBASE,IMCJ-GDT,MGC_GENOME_DIFF,NHLBI-ESP,PHARMGK | 2 | 0.910388 |
MTHFR | chr 1 | 11863056 | 11863057 | rs2066470 | - | G | C/T | coding-synon | 23 | 1000GENOMES,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,GMI,HGBASE,HGSV,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM, | 2 | 0.910381 |
MTHFR | chr 1 | 11848053 | 11848054 | rs34733339 | - | T | A/G | coding-synon,un | 8 | 1000GENOMES,CLINSEQ_SNP,HGSV,ILLUMINA,ILLUMINA-UK,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.981475 |
MTHFR | chr 1 | 11854456 | 11854457 | rs4846051 | + | G | A/G | coding-synon | 31 | 1000GENOMES,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CGM_KYOTO,CLINSEQ_S | 2 | 0.89699
|
MTR | chr 1 | 237058827 | 237058828 | rs1131449 | + | C | C/G/T | coding-synon | 28 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL- | 3 | 0.455829 |
MTR | chr 1 | 237058747 | 237058748 | rs12030699 | + | C | C/T | coding-synon | 9 | 1000GENOMES,BGI,CLINSEQ_SNP,GMI,ILLUMINA,NHLBI-ESP,SC_SNP,SEATTLESEQ,SSMP, | 2 | 0.983051 |
MTR | chr 1 | 237058743 | 237058744 | rs12070777 | + | C | A/C | coding-synon | 17 | 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,CORNELL,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,ILLUMINA-UK,N | 2 | 0.341709 |
MTR | chr 1 | 236992530 | 236992531 | rs201822712 | + | A | A/C | coding-synon | 1 | CLINSEQ_SNP, | 2 | 0.9485
|
MTR | chr 1 | 237054568 | 237054569 | rs2229276 | + | A | A/G | coding-synon | 20 | 1000GENOMES,AFFY,BL,BUSHMAN,CLINSEQ_SNP,CORNELL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP, | 2 | 0.657908 |
MTRR | chr 5 | 7897282 | 7897283 | rs12347 | - | G | C/T | coding-synon | 26 | 1000GENOMES,ABI,APPLERA_GI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENO | 2 | 0.782141 |
MTRR | chr 5 | 7878191 | 7878192 | rs161870 | + | T | C/T | coding-synon | 23 | 1000GENOMES,ABI,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KWOK, | 2 | 0.216049 |
MTRR | chr 5 | 7897318 | 7897319 | rs1802059 | + | G | A/G | coding-synon | 23 | 1000GENOMES,ABI,APPLERA_GI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGBA | 2 | 0.296916 |
MTRR | chr 5 | 7889215 | 7889216 | rs2287779 | + | G | A/G | coding-synon | 16 | 1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PHARMGKB_PPII,SEA | 2 | 0.04965
|
MTRR | chr 5 | 7893004 | 7893005 | rs34172797 | - | C | A/G | coding-synon | 8 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,SI_EXO, | 2 | 0.019431 |
MTRR | chr 5 | 7892932 | 7892933 | rs35890938 | - | A | C/T | coding-synon | 8 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,SI_EXO, | 2 | 0.018837 |
MTRR | chr 5 | 7897060 | 7897061 | rs6874544 | + | T | C/T | coding-synon | 12 | 1000GENOMES,ABI,APPLERA_GI,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,CSHL-HAPMAP,EXOME_CHIP,ILLUMINA,NHLBI-ES | 2 | 0.018671 |
SARDH | chr 9 | 136536678 | 136536679 | rs129932 | + | G | A/G | coding-synon | 26 | 1000GENOMES,ACEVAN,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,ENS | 2 | 0.536276 |
SARDH | chr 9 | 136535746 | 136535747 | rs145913342 | + | G | A/G | coding-synon | 2 | 1000GENOMES,NHLBI-ESP, | 2 | 0.011019 |
SARDH | chr 9 | 136573411 | 136573412 | rs2073815 | - | G | C/T | coding-synon | 28 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENS | 2 | 0.538768 |
SARDH | chr 9 | 136561366 | 136561367 | rs2502740 | + | G | A/G | coding-synon | 18 | 1000GENOMES,APPLERA_GI,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,KRI | 2 | 0.25616
|
SARDH | chr 9 | 136536792 | 136536793 | rs2519123 | - | C | C/G | coding-synon | 21 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,ENSEMBL,GMI,HGSV, | 2 | 0.568133 |
SARDH | chr 9 | 136561447 | 136561448 | rs35013479 | + | G | A/G | coding-synon | 4 | 1000GENOMES,APPLERA_GI,ILLUMINA,NHLBI-ESP, | 2 | 0.014857 |
SARDH | chr 9 | 136595252 | 136595253 | rs35457000 | + | C | C/T | coding-synon | 5 | 1000GENOMES,APPLERA_GI,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.984715 |
SARDH | chr 9 | 136599145 | 136599146 | rs573904 | + | C | C/T | coding-synon | 16 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,CLINSEQ_SNP,CORNELL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,NHLBI- | 2 | 0.776438 |
SHMT1 | chr 17 | 18232135 | 18232136 | rs116100382 | + | G | A/G | coding-synon | 5 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.018245 |
SHMT2 | chr 12 | 57626017 | 57626018 | rs11557166 | + | C | C/T | coding-synon,nc | 11 | 1000GENOMES,CGAP-GAI,CLINSEQ_SNP,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,SEATTLESEQ,SSMP,TISH | 2 | 0.976028 |
SHMT2 | chr 12 | 57626581 | 57626582 | rs2229716 | + | G | A/G | coding-synon,nc | 11 | 1000GENOMES,BCM-HGSC-SUB,CGAP-GAI,CLINSEQ_SNP,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGE | 2 | 0.026497 |
SHMT2 | chr 12 | 57627073 | 57627074 | rs2229717 | + | G | G/T | coding-synon,nc | 9 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,GMI,ILLUMINA,NHLBI-ESP,SEATTLESEQ,SSMP,WICVAR, | 2 | 0.951922 |
SHMT2 | chr 12 | 57627861 | 57627862 | rs2229718 | + | C | C/T | coding-synon,nc | 1 | WICVAR, | 2 | 0.962963 |
SLC19A1 | chr 21 | 46952005 | 46952006 | rs1051269 | - | G | C/G | coding-synon | 8 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,PHARMGKB_AB_DME,SNP500CANCER, | 2 | 0.99
|
SLC19A1 | chr 21 | 46951555 | 46951556 | rs12659 | - | A | C/T | coding-synon | 27 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GEN | 2 | 0.560144 |
SLC19A1 | chr 21 | 46950862 | 46950863 | rs79091853 | + | C | C/T | coding-synon | 5 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,SSMP, | 2 | 0.981272 |
SLC46A1 | chr 17 | 26731724 | 26731725 | rs35257694 | + | G | A/G | coding-synon | 2 | APPLERA_GI,NHLBI-ESP, | 2 | 0.014706 |
SLC46A1 | chr 17 | 26732288 | 26732289 | rs61732735 | + | G | C/G | coding-synon | 1 | CORNELL, | 2 | 0.986486 |
TCN1 | chr 11 | 59623432 | 59623433 | rs1042613 | - | G | C/T | coding-synon | 20 | 1000GENOMES,AFFY,APPLERA_GI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,ILLUMINA,KRIBB_YJKIM,LEE,MG | 2 | 0.703753 |
TCN2 | chr 22 | 31013392 | 31013393 | rs35997415 | + | C | C/G | coding-synon | 1 | APPLERA_GI, | 2 | 0.986842 |
TCN2 | chr 22 | 31013398 | 31013399 | rs76802001 | + | G | A/G | coding-synon | 4 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP, | 2 | 0.022846 |
TYMS | chr 18 | 662246 | 662247 | rs3786362 | - | A | C/T | coding-synon | 11 | 1000GENOMES,CLINSEQ_SNP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,SEATTLESEQ,SSMP, | 2 | 0.028828 |
TYMS | chr 18 | 658034 | 658035 | rs77400748 | + | A | A/G | coding-synon,in | 4 | 1000GENOMES,GMI,NHLBI-ESP,SSMP, | 2 | 0.977961 |