Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
CUBN | chr 10 | 16877079 | 16877080 | rs7898873 | + | G | C/G | missense | 16 | 1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJ | 2 | 0.076828 |
CUBN | chr 10 | 17126382 | 17126383 | rs7905349 | + | G | A/G | missense | 15 | 1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERL | 2 | 0.091189 |
DHFR | chr 5 | 79950714 | 79950715 | rs144776112 | + | G | C/G | missense,untran | 2 | 1000GENOMES,EXOME_CHIP, | 2 | 0.16483
|
DHFR | chr 5 | 79950717 | 79950718 | rs148550291 | + | G | C/G | missense,untran | 2 | 1000GENOMES,EXOME_CHIP, | 2 | 0.161616 |
DHFR | chr 5 | 79950726 | 79950727 | rs1574197 | - | G | C/G | missense,untran | 3 | 1000GENOMES,EXOME_CHIP,TSC-CSHL, | 2 | 0.966942 |
DHFR | chr 5 | 79950780 | 79950781 | rs1650697 | - | A | C/T | missense,untran | 18 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,EGP_SNPS,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HGSV,HUMANGENOME_JCVI | 2 | 0.786587 |
DHFR | chr 5 | 79950723 | 79950724 | rs2001675 | - | G | C/G | missense,untran | 5 | 1000GENOMES,EXOME_CHIP,SSAHASNP,SSMP,TSC-CSHL, | 2 | 0.823691 |
DMGDH | chr 5 | 78326749 | 78326750 | rs1805073 | - | G | C/G | missense | 22 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHI | 2 | 0.676531 |
DMGDH | chr 5 | 78324351 | 78324352 | rs1805074 | - | A | C/T | missense | 23 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHI | 2 | 0.326251 |
DMGDH | chr 5 | 78340285 | 78340286 | rs532964 | - | A | C/T | missense | 28 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGBAS | 3 | 0.580662 |
DNMT1 | chr 19 | 10291180 | 10291181 | rs16999593 | + | T | C/T | missense | 12 | 1000GENOMES,AFFY,BGI,CANCER-GENOME,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,SNP500CANC | 2 | 0.031919 |
DNMT1 | chr 19 | 10273371 | 10273372 | rs2228612 | - | T | A/C/G | missense | 18 | 1000GENOMES,BGI,BUSHMAN,CANCER-GENOME,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,G | 4 | 0.711769 |
DNMT3A | chr 2 | 25470928 | 25470929 | rs34191084 | - | C | A/G | missense | 1 | APPLERA_GI, | 2 | 0.014706 |
DNMT3A | chr 2 | 25463246 | 25463247 | rs34843713 | - | C | A/C/G | missense | 2 | APPLERA_GI,NHLBI-ESP, | 2 | 0.013513 |
FOLH1 | chr 11 | 49204778 | 49204779 | rs116795343 | + | C | C/T | missense,untran | 4 | EXOME_CHIP,GMI,NHLBI-ESP,SSMP, | 2 | 0.974443 |
FOLH1 | chr 11 | 49227619 | 49227620 | rs202676 | - | A | C/T | missense,untran | 22 | 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,CLINSEQ_SNP,CSHL-HAPMAP,EXOME_CHIP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KR | 2 | 0.34328
|
FOLH1 | chr 11 | 49186273 | 49186274 | rs61886492 | + | G | A/G | missense | 10 | 1000GENOMES,BCMHGSC_JDW,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,GENETICA_UNIFESP,GMI,NHLBI-ESP,SEATTLESEQ,SSM | 2 | 0.038302 |
FOLH1 | chr 11 | 49208266 | 49208267 | rs75940285 | + | G | A/G | missense,untran | 4 | CLINSEQ_SNP,EXOME_CHIP,GMI,MPI_MOLGEN, | 2 | 0.123
|
FPGS | chr 9 | 130572045 | 130572046 | rs200893897 | + | G | A/G | missense | 3 | 1000GENOMES,EXOME_CHIP,NHLBI-ESP, | 2 | 0.01056
|
FPGS | chr 9 | 130570893 | 130570894 | rs2230270 | + | A | A/G | missense | 2 | NHLBI-ESP,WICVAR, | 2 | 0.978261 |
FPGS | chr 9 | 130575701 | 130575702 | rs34354111 | + | G | C/G | missense | 3 | APPLERA_GI,ILLUMINA,PERLEGEN, | 2 | 0.039474 |
FTCD | chr 21 | 47571809 | 47571810 | rs116089237 | + | T | A/T | missense | 4 | 1000GENOMES,EXOME_CHIP,NHLBI-ESP,TISHKOFF, | 2 | 0.017857 |
FTCD | chr 21 | 47571879 | 47571880 | rs61729373 | + | C | C/T | missense | 3 | CORNELL,EXOME_CHIP,NHLBI-ESP, | 2 | 0.954545 |
FTCD | chr 21 | 47572886 | 47572887 | rs61735836 | + | C | C/T | missense | 10 | 1000GENOMES,BUSHMAN,CORNELL,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.925513 |
FTCD | chr 21 | 47558455 | 47558456 | rs61735839 | + | C | C/T | missense | 3 | CORNELL,EXOME_CHIP,NHLBI-ESP, | 2 | 0.978261 |
FTCD | chr 21 | 47558500 | 47558501 | rs61735840 | + | G | A/G | missense | 3 | CORNELL,EXOME_CHIP,NHLBI-ESP, | 2 | 0.018519 |
FTCD | chr 21 | 47558551 | 47558552 | rs61735841 | + | G | A/G | missense | 8 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EXOME_CHIP,NHLBI-ESP,SSMP,TISHKOFF, | 2 | 0.047994 |
GART | chr 21 | 34882130 | 34882131 | rs114500396 | + | T | G/T | missense | 4 | 1000GENOMES,EXOME_CHIP,ILLUMINA,NHLBI-ESP, | 2 | 0.015346 |
GART | chr 21 | 34892843 | 34892844 | rs35927582 | - | T | A/G | missense | 6 | 1000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN, | 2 | 0.989402 |
GART | chr 21 | 34889722 | 34889723 | rs59920090 | + | G | A/G | missense | 8 | 1000GENOMES,CORNELL,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.024691 |
GART | chr 21 | 34897112 | 34897113 | rs8788 | - | C | A/G/T | missense | 32 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS, | 4 | 0.662801 |
GART | chr 21 | 34883617 | 34883618 | rs8971 | - | T | A/G | missense | 24 | 1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,E | 2 | 0.8349
|
GART | chr 21 | 34876537 | 34876538 | rs9636610 | + | C | C/T | missense | 6 | 1000GENOMES,AFFY,EXOME_CHIP,GMI,SC_SNP,SSMP, | 2 | 0.988012 |
GGH | chr 8 | 63951236 | 63951237 | rs11545077 | - | C | A/G | missense | 23 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,E | 4 | 0.153976 |
GGH | chr 8 | 63938763 | 63938764 | rs11545078 | - | G | C/T | missense | 20 | 1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME | 2 | 0.918898 |
GGH | chr 8 | 63951311 | 63951312 | rs1800909 | - | A | C/T | missense | 23 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMB | 2 | 0.231009 |
GIF | chr 11 | 59612858 | 59612859 | rs35211634 | + | T | C/T | missense | 14 | 1000GENOMES,APPLERA_GI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,OMIM- | 2 | 0.098385 |
GIF | chr 11 | 59604753 | 59604754 | rs35867471 | + | T | C/T | missense | 7 | 1000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,TISHKOFF, | 2 | 0.027793 |
MMAB | chr 3 | 129155669 | 129155670 | rs10342 | - | C | A/G/T | intron,missense | 17 | 1000GENOMES,BUSHMAN,CANCER-GENOME,CGAP-GAI,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,HGSV,ILLUMINA,KRIBB_YJKIM | 4 | 0.070367 |
MMAB | chr 3 | 129155450 | 129155451 | rs140693 | - | C | A/G | intron,missense | 19 | 1000GENOMES,ABI,AFFY,CLINSEQ_SNP,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,LD | 2 | 0.061154 |
MMAB | chr 3 | 129155462 | 129155463 | rs2307289 | - | A | C/T | intron,missense | 15 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP | 2 | 0.04407
|
MTFMT | chr 15 | 65321937 | 65321938 | rs2946655 | - | A | C/T | missense | 12 | 1000GENOMES,ABI,CORNELL,ENSEMBL,EXOME_CHIP,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP,SC_JCM,SSAHASNP,S | 2 | 0.057532 |
MTHFD1 | chr 14 | 64916164 | 64916165 | rs10813 | + | C | C/T | missense | 12 | 1000GENOMES,AFFY,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SSM | 2 | 0.970724 |
MTHFD1 | chr 14 | 64916187 | 64916188 | rs17857382 | + | C | C/T | missense | 10 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,ILLUMINA,MGC_GENOME_DIFF,NHLBI-ESP,SEATTLE | 2 | 0.970676 |
MTHFD1 | chr 14 | 64882379 | 64882380 | rs1950902 | - | A | C/T | missense | 33 | 1000GENOMES,AFFX,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOM | 3 | 0.826803 |
MTHFD1 | chr 14 | 64884706 | 64884707 | rs201524044 | + | A | A/C | missense | 2 | CLINSEQ_SNP,EXOME_CHIP, | 2 | 0.8805
|
MTHFD1 | chr 14 | 64908844 | 64908845 | rs2236225 | - | G | C/T | missense | 29 | 1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,EXO | 3 | 0.641143 |
MTHFD1L | chr 6 | 151336788 | 151336789 | rs35829704 | - | C | A/G | missense | 1 | APPLERA_GI, | 2 | 0.017857 |
MTHFD1L | chr 6 | 151270230 | 151270231 | rs61748674 | + | G | A/G | missense | 6 | 1000GENOMES,CANCER-GENOME,CLINSEQ_SNP,EXOME_CHIP,NHLBI-ESP,TISHKOFF, | 2 | 0.011523 |
MTHFD2 | chr 2 | 74438405 | 74438406 | rs183389698 | + | A | A/G | ncRNA,missense | 3 | 1000GENOMES,EXOME_CHIP,NHLBI-ESP, | 2 | 0.980257 |
MTHFR | chr 1 | 11848067 | 11848068 | rs1537514 | - | G | C/G | missense,untran | 13 | 1000GENOMES,ABI,CLINSEQ_SNP,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SI_EXO,SNP500CANCER,SSMP,TISHKOFF | 2 | 0.871519 |
MTHFR | chr 1 | 11854475 | 11854476 | rs1801131 | - | T | A/C | missense | 25 | 1000GENOMES,AFFY,APPLERA_GI,BCMHGSC_JDW,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,EXO | 4 | 0.722351 |
MTHFR | chr 1 | 11856377 | 11856378 | rs1801133 | - | G | C/T | missense | 33 | 1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE | 2 | 0.719393 |
MTHFR | chr 1 | 11850926 | 11850927 | rs2274976 | - | C | A/G | missense | 17 | 1000GENOMES,AFFY,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,GMI,ILLUMINA,IMCJ-GDT,KRIBB_YJ | 2 | 0.050935 |
MTHFR | chr 1 | 11850749 | 11850750 | rs35737219 | + | G | A/G | missense | 9 | 1000GENOMES,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII, | 2 | 0.017006 |
MTHFR | chr 1 | 11847448 | 11847449 | rs3737967 | - | G | C/T | missense,untran | 6 | 1000GENOMES,CLINSEQ_SNP,GMI,ILLUMINA,SSMP,YUSUKE, | 2 | 0.94897
|
MTHFR | chr 1 | 11854473 | 11854474 | rs72552099 | - | T | A/C | missense | 1 | PHARMGKB_PPII, | 2 | 0.67314
|
MTHFR | chr 1 | 11849446 | 11849447 | rs868014 | - | A | C/T | missense,untran | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,E | 2 | 0.945596 |
MTHFS | chr 15 | 80137559 | 80137560 | rs8923 | - | T | A/G | ncRNA,missense | 23 | 1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCM_SSAHASNP,CGAP-GAI,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,HG | 2 | 0.928826 |
MTR | chr 1 | 237048499 | 237048500 | rs1805087 | + | A | A/G | missense | 26 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,ENSEMBL, | 2 | 0.786029 |
MTR | chr 1 | 236990140 | 236990141 | rs2229274 | + | G | A/G | missense | 7 | 1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,WICVAR, | 2 | 0.019348 |
MTR | chr 1 | 237058742 | 237058743 | rs61736326 | + | G | A/G | missense | 7 | 1000GENOMES,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.017925 |
MTR | chr 1 | 236966877 | 236966878 | rs61736442 | + | C | C/T | missense | 1 | CORNELL, | 2 | 0.987179 |
MTR | chr 1 | 237060371 | 237060372 | rs61739582 | + | A | A/G | missense | 8 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.980419 |
MTRR | chr 5 | 7885906 | 7885907 | rs10064631 | + | C | C/G | missense | 12 | 1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,SEA | 2 | 0.947887 |
MTRR | chr 5 | 7897190 | 7897191 | rs10380 | + | C | C/T | missense | 25 | 1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGSV,ILLUM | 2 | 0.811339 |
MTRR | chr 5 | 7878178 | 7878179 | rs1532268 | - | C | A/G | missense | 27 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,ENSEMBL | 2 | 0.295599 |
MTRR | chr 5 | 7885958 | 7885959 | rs162036 | + | A | A/G | missense | 23 | 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMAN | 2 | 0.774035 |
MTRR | chr 5 | 7891505 | 7891506 | rs16879334 | + | C | C/G | missense | 11 | 1000GENOMES,AFFY,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.9567
|
MTRR | chr 5 | 7889303 | 7889304 | rs2287780 | + | C | C/T | missense | 16 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII, | 2 | 0.95005
|
MTRR | chr 5 | 7878423 | 7878424 | rs2303080 | + | T | A/T | missense | 13 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SEA | 2 | 0.03061
|
SARDH | chr 9 | 136597581 | 136597582 | rs146886270 | + | T | C/T | missense | 4 | 1000GENOMES,EXOME_CHIP,NHLBI-ESP,TISHKOFF, | 2 | 0.010702 |
SARDH | chr 9 | 136559459 | 136559460 | rs2073817 | - | C | A/G | missense | 19 | 1000GENOMES,APPLERA_GI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EXOME_CHIP,GMI,HGBASE,ILLUMI | 2 | 0.36085
|
SARDH | chr 9 | 136582481 | 136582482 | rs35218200 | + | C | A/C | missense | 9 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.015637 |
SARDH | chr 9 | 136599231 | 136599232 | rs35559818 | + | C | A/C | missense | 8 | 1000GENOMES,APPLERA_GI,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,TISHKOFF, | 2 | 0.017533 |
SARDH | chr 9 | 136535745 | 136535746 | rs61685718 | + | C | C/T | missense | 7 | 1000GENOMES,CORNELL,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,SEATTLESEQ, | 2 | 0.987319 |
SARDH | chr 9 | 136555628 | 136555629 | rs886016 | - | T | A/G | missense | 27 | 1000GENOMES,ABI,APPLERA_GI,BCM_SSAHASNP,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGBA | 2 | 0.469593 |
SHMT1 | chr 17 | 18232095 | 18232096 | rs1979277 | + | G | A/G | missense | 27 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHI | 2 | 0.281109 |
SHMT2 | chr 12 | 57624700 | 57624701 | rs73338162 | + | C | C/T | ncRNA,missense | 9 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.970348 |
SLC19A1 | chr 21 | 46957793 | 46957794 | rs1051266 | - | T | A/G | missense | 27 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GEN | 2 | 0.517813 |
SLC19A1 | chr 21 | 46950737 | 46950738 | rs199761250 | + | T | C/T | missense | 1 | 1000GENOMES, | 2 | 0.016988 |
SLC19A1 | chr 21 | 46935674 | 46935675 | rs35786590 | - | G | C/T | intron,missense | 3 | APPLERA_GI,ILLUMINA,PERLEGEN, | 2 | 0.928571 |
SLC19A1 | chr 21 | 46935941 | 46935942 | rs7278825 | + | G | A/G | intron,missense | 9 | 1000GENOMES,BCM_SSAHASNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_PMT,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.012385 |
SLC25A32 | chr 8 | 104427358 | 104427359 | rs3134295 | + | A | A/C | ncRNA,missense, | 25 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HG | 2 | 0.53701
|
SLC25A32 | chr 8 | 104427540 | 104427541 | rs3134296 | + | C | C/T | ncRNA,missense, | 23 | 1000GENOMES,ABI,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI | 2 | 0.817443 |
SLC46A1 | chr 17 | 26732385 | 26732386 | rs201076728 | + | C | C/T | missense | 3 | CLINSEQ_SNP,EXOME_CHIP,NHLBI-ESP, | 2 | 0.989
|
SLC46A1 | chr 17 | 26732943 | 26732944 | rs41297071 | - | C | C/G/T | missense | 3 | EXOME_CHIP,NHLBI-ESP,RSG_UW, | 3 | 0.010526 |
TCN1 | chr 11 | 59623377 | 59623378 | rs34324219 | + | C | A/C | missense | 12 | 1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERL | 2 | 0.085682 |
TCN1 | chr 11 | 59631534 | 59631535 | rs34528912 | + | C | C/T | missense | 7 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN, | 2 | 0.971403 |
TCN2 | chr 22 | 31018974 | 31018975 | rs1131603 | + | T | C/T | missense | 11 | 1000GENOMES,AFFY,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,SEATTLESEQ,SEQ | 2 | 0.03352
|
TCN2 | chr 22 | 31013373 | 31013374 | rs117458738 | + | C | C/T | missense | 5 | 1000GENOMES,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SSMP, | 2 | 0.989991 |
TCN2 | chr 22 | 31011609 | 31011610 | rs1801198 | + | G | C/G | missense | 33 | 1000GENOMES,ABI,APPLERA_GI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HA | 2 | 0.609673 |
TCN2 | chr 22 | 31011349 | 31011350 | rs35838082 | + | C | C/T | missense | 14 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,NH | 2 | 0.924748 |
TCN2 | chr 22 | 31008866 | 31008867 | rs35915865 | + | T | C/T | missense | 9 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SI_EXO,SSMP, | 2 | 0.010809 |
TCN2 | chr 22 | 31019043 | 31019044 | rs4820889 | + | G | A/G | missense | 16 | 1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_S | 2 | 0.055431 |
TCN2 | chr 22 | 31006859 | 31006860 | rs9606756 | + | A | A/G | missense | 20 | 1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGSV,ILLUM | 2 | 0.884863 |
TCN2 | chr 22 | 31013418 | 31013419 | rs9621049 | + | C | C/T | missense | 16 | 1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KR | 2 | 0.882287 |
TYMS | chr 18 | 662214 | 662215 | rs11540152 | + | T | C/T | missense | 3 | CGAP-GAI,ILLUMINA,KRIBB_YJKIM, | 2 | 0.087209 |
TYMS | chr 18 | 658063 | 658064 | rs2853533 | + | G | C/G | intron,missense | 15 | 1000GENOMES,BGI,BUSHMAN,CGAP-GAI,ENSEMBL,EXOME_CHIP,GMI,HGSV,ILLUMINA,MGC_GENOME_DIFF,NHLBI-ESP,SC_J | 2 | 0.316397 |