Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
ALDH1L1 | chr 3 | 125826058 | 125826059 | rs1127717 | - | T | A/G | intron,ncRNA,mi | 22 | 1000GENOMES,ABI,APPLERA_GI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,G | 3 | 0.799607 |
ALDH1L1 | chr 3 | 125898937 | 125898938 | rs114261500 | + | G | G/T | intron,ncRNA | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.979965 |
ALDH1L1 | chr 3 | 125899508 | 125899509 | rs182989946 | + | G | C/G | intron,ncRNA,un | 2 | 1000GENOMES,SSMP, | 2 | 0.019284 |
ALDH1L1 | chr 3 | 125854408 | 125854409 | rs2276724 | - | T | A/G | ncRNA,missense | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,E | 2 | 0.850019 |
ALDH1L1 | chr 3 | 125865765 | 125865766 | rs2886059 | - | C | G/T | ncRNA,missense | 25 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,COR | 3 | 0.77148
|
ALDH1L1 | chr 3 | 125872383 | 125872384 | rs3796191 | + | A | A/G | ncRNA,missense | 10 | 1000GENOMES,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,RIKENSNPRC,SEATTLESEQ,YUSU | 2 | 0.945073 |
ALDH1L1 | chr 3 | 125899066 | 125899067 | rs4646696 | - | C | C/G | intron,ncRNA | 12 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA-UK,PJP,RIKENSNPRC,SI_EXO,SS | 2 | 0.266317 |
ALDH1L1 | chr 3 | 125826002 | 125826003 | rs4646750 | - | T | A/G | intron,ncRNA,mi | 17 | 1000GENOMES,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,ILLUMINA | 2 | 0.918771 |
ALDH1L1 | chr 3 | 125855664 | 125855665 | rs9282691 | - | T | A/C | ncRNA,missense | 14 | 1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,PERLEGEN,SEATTLESEQ, | 2 | 0.93457
|
AMT | chr 3 | 49454276 | 49454277 | rs10640 | - | G | A/C/G | intron,ncRNA,un | 15 | 1000GENOMES,ABI,BCM_SSAHASNP,CGAP-GAI,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,LEE,PERLEGE | 2 | 0.774347 |
ITPA | chr 20 | 3193841 | 3193842 | rs1127354 | + | C | A/C/G | intron,ncRNA,mi | 17 | 1000GENOMES,AFFY,BGI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,OMICIA,OM | 3 | 0.067139 |
ITPA | chr 20 | 3204230 | 3204231 | rs13830 | + | G | A/G | ncRNA,untransla | 14 | 1000GENOMES,BGI,BUSHMAN,CGAP-GAI,GMI,ILLUMINA,KRIBB_YJKIM,LEE,PERLEGEN,SC_SNP,SI_EXO,SSMP,TISHKOFF,Y | 2 | 0.081119 |
ITPA | chr 20 | 3204175 | 3204176 | rs75609817 | + | C | C/T | ncRNA,untransla | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.975174 |
MTHFD2 | chr 2 | 74441798 | 74441799 | rs12196 | - | A | C/T | ncRNA,untransla | 17 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMI | 2 | 0.310635 |
MTHFD2 | chr 2 | 74438405 | 74438406 | rs183389698 | + | A | A/G | ncRNA,missense | 3 | 1000GENOMES,EXOME_CHIP,NHLBI-ESP, | 2 | 0.980257 |
MTHFD2 | chr 2 | 74441902 | 74441903 | rs74334588 | + | C | C/T | ncRNA,untransla | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.96777
|
MTHFD2 | chr 2 | 74442406 | 74442407 | rs8001 | - | A | C/T | ncRNA,untransla | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI, | 2 | 0.48342
|
MTHFS | chr 15 | 80136461 | 80136462 | rs10519253 | - | T | A/T | ncRNA,untransla | 10 | 1000GENOMES,AFFY,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,ENSEMBL,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.483978 |
MTHFS | chr 15 | 80189167 | 80189168 | rs116077206 | + | T | C/T | intron,ncRNA | 2 | 1000GENOMES,NHLBI-ESP, | 2 | 0.024826 |
MTHFS | chr 15 | 80136771 | 80136772 | rs11854561 | + | C | C/T | ncRNA,untransla | 20 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,H | 3 | 0.702714 |
MTHFS | chr 15 | 80136646 | 80136647 | rs12185084 | + | G | A/G | ncRNA,untransla | 12 | 1000GENOMES,AFFY,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,SC_SNP,SSMP,TISHK | 2 | 0.131858 |
MTHFS | chr 15 | 80136813 | 80136814 | rs16971422 | + | T | C/T | ncRNA,untransla | 6 | 1000GENOMES,AFFY,ILLUMINA,KRIBB_YJKIM,PERLEGEN,TISHKOFF, | 2 | 0.016768 |
MTHFS | chr 15 | 80137182 | 80137183 | rs1870577 | + | A | A/C | ncRNA,untransla | 7 | 1000GENOMES,ABI,BUSHMAN,PERLEGEN,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.971009 |
MTHFS | chr 15 | 80189229 | 80189230 | rs200058464 | + | C | A/C | intron,ncRNA,mi | 3 | 1000GENOMES,EXOME_CHIP,NHLBI-ESP, | 2 | 0.014692 |
MTHFS | chr 15 | 80136831 | 80136832 | rs35083796 | + | G | A/G | ncRNA,untransla | 9 | 1000GENOMES,ABI,BCM-HGSC-SUB,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSMP,TISHKOFF, | 2 | 0.064501 |
MTHFS | chr 15 | 80136736 | 80136737 | rs35448589 | + | G | A/G | ncRNA,untransla | 5 | 1000GENOMES,ABI,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA, | 2 | 0.043498 |
MTHFS | chr 15 | 80136128 | 80136129 | rs685487 | - | A | C/T | ncRNA,untransla | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,G | 4 | 0.018013 |
MTHFS | chr 15 | 80136020 | 80136021 | rs76424789 | + | A | A/T | ncRNA,untransla | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.972936 |
MTHFS | chr 15 | 80136287 | 80136288 | rs8033649 | + | C | A/C | ncRNA,untransla | 8 | 1000GENOMES,AFFY,BUSHMAN,HGSV,ILLUMINA,KRIBB_YJKIM,TISHKOFF,WI_SSAHASNP, | 2 | 0.062922 |
MTHFS | chr 15 | 80136743 | 80136744 | rs8038218 | + | A | A/G | ncRNA,untransla | 4 | 1000GENOMES,BUSHMAN,TISHKOFF,WI_SSAHASNP, | 2 | 0.974051 |
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 |
SHMT2 | chr 12 | 57628315 | 57628316 | rs11557168 | - | C | A/G | intron,ncRNA,un | 3 | CGAP-GAI,ILLUMINA,KRIBB_YJKIM, | 2 | 0.019608 |
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 |
SLC25A32 | chr 8 | 104411281 | 104411282 | rs1061195 | - | T | A/G | ncRNA,untransla | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,CGAP-GAI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_J | 2 | 0.733364 |
SLC25A32 | chr 8 | 104410927 | 104410928 | rs1061196 | - | C | A/G | ncRNA,untransla | 14 | 1000GENOMES,BCM_SSAHASNP,BL,BUSHMAN,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,LEE,PERLEGEN,P | 2 | 0.190239 |
SLC25A32 | chr 8 | 104411076 | 104411081 | rs111398011 | + | AT | -/ATA | ncRNA,untransla | 6 | 1000GENOMES,BILGI_BIOE,BUSHMAN,GMI,LUNTER,SSMP, | 2 | 0.173853 |
SLC25A32 | chr 8 | 104412474 | 104412475 | rs11345830 | + | A | -/A | ncRNA,untransla | 13 | 1000GENOMES,BGI,BILGI_BIOE,BL,BUSHMAN,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 1
|
SLC25A32 | chr 8 | 104411057 | 104411058 | rs12546452 | + | A | A/C | ncRNA,untransla | 5 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,SSMP, | 2 | 0.982585 |
SLC25A32 | chr 8 | 104412150 | 104412151 | rs148028640 | + | A | A/T | ncRNA,untransla | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.986685 |
SLC25A32 | chr 8 | 104417044 | 104417045 | rs17803441 | + | C | C/T | intron,ncRNA,mi | 9 | 1000GENOMES,AFFY,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN, | 2 | 0.952397 |
SLC25A32 | chr 8 | 104412387 | 104412388 | rs2241777 | + | C | A/C | ncRNA,untransla | 23 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV, | 2 | 0.455525 |
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 |
SLC25A32 | chr 8 | 104412516 | 104412517 | rs35225263 | + | A | A/T | ncRNA,untransla | 12 | 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SSMP,TISHKOFF | 2 | 0.824171 |
SLC25A32 | chr 8 | 104412634 | 104412635 | rs74934875 | + | G | A/G | ncRNA,untransla | 4 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP, | 2 | 0.014779 |