Gene Symbol | rsID | Chromosome | CNV Start | CNV End | Name | SNP Start | SNP End | Ref NCBI | Observed | Strand | Function | Allele Frequency | PMID | Method |
---|
SHMT1 | rs8076680 | chr17 | 16658683 | 18263022 | nsv155 | 17325160 | 17325161 | G | A/G | + | intron | 0.032844,0.967156, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs8076680 | chr17 | 16689381 | 18271429 | nsv499114 | 17325160 | 17325161 | G | A/G | + | intron | 0.032844,0.967156, | 21111241 | Sequencing | SHMT1 | rs9890753 | chr17 | 16658683 | 18263022 | nsv155 | 17325180 | 17325181 | G | A/G | + | intron | 0.150481,0.849519, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs9890753 | chr17 | 16689381 | 18271429 | nsv499114 | 17325180 | 17325181 | G | A/G | + | intron | 0.150481,0.849519, | 21111241 | Sequencing | SHMT1 | rs57886565 | chr17 | 16658683 | 18263022 | nsv155 | 17325862 | 17325863 | T | A/T | + | intron | 0.134464,0.865536, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs57886565 | chr17 | 16689381 | 18271429 | nsv499114 | 17325862 | 17325863 | T | A/T | + | intron | 0.134464,0.865536, | 21111241 | Sequencing | SHMT1 | rs28579049 | chr17 | 16658683 | 18263022 | nsv155 | 17325901 | 17325902 | G | G/T | + | intron | 0.654214,0.345786, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs28579049 | chr17 | 16689381 | 18271429 | nsv499114 | 17325901 | 17325902 | G | G/T | + | intron | 0.654214,0.345786, | 21111241 | Sequencing | SHMT1 | rs16961675 | chr17 | 16658683 | 18263022 | nsv155 | 17325950 | 17325951 | T | G/T | + | intron | 0.301836,0.698164, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs16961675 | chr17 | 16689381 | 18271429 | nsv499114 | 17325950 | 17325951 | T | G/T | + | intron | 0.301836,0.698164, | 21111241 | Sequencing | SHMT1 | rs35590625 | chr17 | 16658683 | 18263022 | nsv155 | 17326362 | 17326363 | G | A/G | + | missense | 0.252695,0.747305, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs35590625 | chr17 | 16689381 | 18271429 | nsv499114 | 17326362 | 17326363 | G | A/G | + | missense | 0.252695,0.747305, | 21111241 | Sequencing | SHMT1 | rs9898908 | chr17 | 16658683 | 18263022 | nsv155 | 17326394 | 17326395 | C | C/T | + | coding-synon | 0.989977,0.010023, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs9898908 | chr17 | 16689381 | 18271429 | nsv499114 | 17326394 | 17326395 | C | C/T | + | coding-synon | 0.989977,0.010023, | 21111241 | Sequencing | SHMT1 | rs60113794 | chr17 | 16658683 | 18263022 | nsv155 | 17326402 | 17326403 | G | G/T | + | missense | 0.987156,0.012844, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs60113794 | chr17 | 16689381 | 18271429 | nsv499114 | 17326402 | 17326403 | G | G/T | + | missense | 0.987156,0.012844, | 21111241 | Sequencing | SHMT1 | rs7225976 | chr17 | 16658683 | 18263022 | nsv155 | 17326603 | 17326604 | C | C/T | + | missense | 0.661792,0.338208, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs7225976 | chr17 | 16689381 | 18271429 | nsv499114 | 17326603 | 17326604 | C | C/T | + | missense | 0.661792,0.338208, | 21111241 | Sequencing | SHMT1 | rs7225831 | chr17 | 16658683 | 18263022 | nsv155 | 17326604 | 17326605 | A | A/G | + | coding-synon | 0.600288,0.399712, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs7225831 | chr17 | 16689381 | 18271429 | nsv499114 | 17326604 | 17326605 | A | A/G | + | coding-synon | 0.600288,0.399712, | 21111241 | Sequencing | SHMT1 | rs60444361 | chr17 | 16658683 | 18263022 | nsv155 | 17327260 | 17327261 | G | A/G | + | unknown | 0.012844,0.987156, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs60444361 | chr17 | 16689381 | 18271429 | nsv499114 | 17327260 | 17327261 | G | A/G | + | unknown | 0.012844,0.987156, | 21111241 | Sequencing | SHMT1 | rs11652787 | chr17 | 16658683 | 18263022 | nsv155 | 17327492 | 17327493 | G | A/G | + | unknown | 0.233820,0.766181, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs11652787 | chr17 | 16689381 | 18271429 | nsv499114 | 17327492 | 17327493 | G | A/G | + | unknown | 0.233820,0.766181, | 21111241 | Sequencing | SHMT1 | rs78328777 | chr17 | 16658683 | 18263022 | nsv155 | 17327518 | 17327519 | G | A/G | + | unknown | 0.010560,0.989440, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs78328777 | chr17 | 16689381 | 18271429 | nsv499114 | 17327518 | 17327519 | G | A/G | + | unknown | 0.010560,0.989440, | 21111241 | Sequencing | SHMT1 | rs116258657 | chr17 | 16658683 | 18263022 | nsv155 | 17327577 | 17327578 | C | C/T | + | unknown | 0.986063,0.013937, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs116258657 | chr17 | 16689381 | 18271429 | nsv499114 | 17327577 | 17327578 | C | C/T | + | unknown | 0.986063,0.013937, | 21111241 | Sequencing | SHMT1 | rs9907673 | chr17 | 16658683 | 18263022 | nsv155 | 17327891 | 17327892 | C | A/C | + | unknown | 0.040770,0.959230, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs9907673 | chr17 | 16689381 | 18271429 | nsv499114 | 17327891 | 17327892 | C | A/C | + | unknown | 0.040770,0.959230, | 21111241 | Sequencing | SHMT1 | rs9915257 | chr17 | 16658683 | 18263022 | nsv155 | 17328073 | 17328074 | T | C/T | + | unknown | 0.010082,0.989918, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs9915257 | chr17 | 16689381 | 18271429 | nsv499114 | 17328073 | 17328074 | T | C/T | + | unknown | 0.010082,0.989918, | 21111241 | Sequencing | SHMT1 | rs12949948 | chr17 | 16658683 | 18263022 | nsv155 | 17328110 | 17328111 | G | A/G | + | unknown | 0.383729,0.616271, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs12949948 | chr17 | 16689381 | 18271429 | nsv499114 | 17328110 | 17328111 | G | A/G | + | unknown | 0.383729,0.616271, | 21111241 | Sequencing | SHMT1 | rs9916127 | chr17 | 16658683 | 18263022 | nsv155 | 17328410 | 17328411 | T | C/T | + | unknown | 0.357794,0.642206, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs9916127 | chr17 | 16689381 | 18271429 | nsv499114 | 17328410 | 17328411 | T | C/T | + | unknown | 0.357794,0.642206, | 21111241 | Sequencing | SHMT1 | rs149982138 | chr17 | 16658683 | 18263022 | nsv155 | 17328493 | 17328494 | G | A/G | + | unknown | 0.015151,0.984848, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs149982138 | chr17 | 16689381 | 18271429 | nsv499114 | 17328493 | 17328494 | G | A/G | + | unknown | 0.015151,0.984848, | 21111241 | Sequencing | SHMT1 | rs9914744 | chr17 | 16658683 | 18263022 | nsv155 | 17328518 | 17328519 | C | C/T | + | unknown | 0.945005,0.054995, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs9914744 | chr17 | 16689381 | 18271429 | nsv499114 | 17328518 | 17328519 | C | C/T | + | unknown | 0.945005,0.054995, | 21111241 | Sequencing | SHMT1 | rs117432750 | chr17 | 16658683 | 18263022 | nsv155 | 17328622 | 17328623 | G | A/G | + | unknown | 0.030190,0.969810, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs117432750 | chr17 | 16689381 | 18271429 | nsv499114 | 17328622 | 17328623 | G | A/G | + | unknown | 0.030190,0.969810, | 21111241 | Sequencing | SHMT1 | rs116310357 | chr17 | 16658683 | 18263022 | nsv155 | 17328649 | 17328650 | T | C/T | + | unknown | 0.023519,0.976481, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs116310357 | chr17 | 16689381 | 18271429 | nsv499114 | 17328649 | 17328650 | T | C/T | + | unknown | 0.023519,0.976481, | 21111241 | Sequencing | SHMT1 | rs4924833 | chr17 | 16658683 | 18263022 | nsv155 | 17328747 | 17328748 | G | A/G | + | unknown | 0.359429,0.640571, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs4924833 | chr17 | 16689381 | 18271429 | nsv499114 | 17328747 | 17328748 | G | A/G | + | unknown | 0.359429,0.640571, | 21111241 | Sequencing | SHMT1 | rs34407974 | chr17 | 16658683 | 18263022 | nsv155 | 17329084 | 17329085 | C | C/T | + | unknown | 0.780165,0.219835, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs34407974 | chr17 | 16689381 | 18271429 | nsv499114 | 17329084 | 17329085 | C | C/T | + | unknown | 0.780165,0.219835, | 21111241 | Sequencing | SHMT1 | rs59269214 | chr17 | 16658683 | 18263022 | nsv155 | 17329560 | 17329561 | C | C/T | + | unknown | 0.982569,0.017431, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs59269214 | chr17 | 16689381 | 18271429 | nsv499114 | 17329560 | 17329561 | C | C/T | + | unknown | 0.982569,0.017431, | 21111241 | Sequencing | SHMT1 | rs115228492 | chr17 | 16658683 | 18263022 | nsv155 | 17329652 | 17329653 | A | A/T | + | unknown | 0.974303,0.025697, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs115228492 | chr17 | 16689381 | 18271429 | nsv499114 | 17329652 | 17329653 | A | A/T | + | unknown | 0.974303,0.025697, | 21111241 | Sequencing | SHMT1 | rs4315391 | chr17 | 16658683 | 18263022 | nsv155 | 17329727 | 17329728 | G | A/G | + | unknown | 0.401414,0.598586, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs4315391 | chr17 | 16689381 | 18271429 | nsv499114 | 17329727 | 17329728 | G | A/G | + | unknown | 0.401414,0.598586, | 21111241 | Sequencing | SHMT1 | rs58545528 | chr17 | 16658683 | 18263022 | nsv155 | 17330270 | 17330271 | C | C/T | + | unknown | 0.983486,0.016514, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs58545528 | chr17 | 16689381 | 18271429 | nsv499114 | 17330270 | 17330271 | C | C/T | + | unknown | 0.983486,0.016514, | 21111241 | Sequencing | SHMT1 | rs9916783 | chr17 | 16658683 | 18263022 | nsv155 | 17330406 | 17330407 | G | A/G | + | unknown | 0.026233,0.973767, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs9916783 | chr17 | 16689381 | 18271429 | nsv499114 | 17330406 | 17330407 | G | A/G | + | unknown | 0.026233,0.973767, | 21111241 | Sequencing | SHMT1 | rs1588116 | chr17 | 16658683 | 18263022 | nsv155 | 17330663 | 17330664 | T | A/G | - | unknown | 0.663321,0.336679, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs1588116 | chr17 | 16689381 | 18271429 | nsv499114 | 17330663 | 17330664 | T | A/G | - | unknown | 0.663321,0.336679, | 21111241 | Sequencing | SHMT1 | rs9889511 | chr17 | 16658683 | 18263022 | nsv155 | 17330804 | 17330805 | A | A/G | + | unknown | 0.675182,0.324818, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs9889511 | chr17 | 16689381 | 18271429 | nsv499114 | 17330804 | 17330805 | A | A/G | + | unknown | 0.675182,0.324818, | 21111241 | Sequencing | SHMT1 | rs13341147 | chr17 | 16658683 | 18263022 | nsv155 | 17331294 | 17331295 | C | C/T | + | unknown | 0.680695,0.319305, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs13341147 | chr17 | 16689381 | 18271429 | nsv499114 | 17331294 | 17331295 | C | C/T | + | unknown | 0.680695,0.319305, | 21111241 | Sequencing | SHMT1 | rs13341139 | chr17 | 16658683 | 18263022 | nsv155 | 17331307 | 17331308 | A | A/G | + | unknown | 0.437843,0.562157, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs13341139 | chr17 | 16689381 | 18271429 | nsv499114 | 17331307 | 17331308 | A | A/G | + | unknown | 0.437843,0.562157, | 21111241 | Sequencing | SHMT1 | rs13341148 | chr17 | 16658683 | 18263022 | nsv155 | 17331328 | 17331329 | C | C/T | + | unknown | 0.748629,0.251371, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs13341148 | chr17 | 16689381 | 18271429 | nsv499114 | 17331328 | 17331329 | C | C/T | + | unknown | 0.748629,0.251371, | 21111241 | Sequencing | SHMT1 | rs148899429 | chr17 | 16658683 | 18263022 | nsv155 | 17331335 | 17331336 | G | A/G | + | unknown | 0.014233,0.985767, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs148899429 | chr17 | 16689381 | 18271429 | nsv499114 | 17331335 | 17331336 | G | A/G | + | unknown | 0.014233,0.985767, | 21111241 | Sequencing | SHMT1 | rs13341162 | chr17 | 16658683 | 18263022 | nsv155 | 17331342 | 17331343 | G | G/T | + | unknown | 0.669561,0.330439, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs13341162 | chr17 | 16689381 | 18271429 | nsv499114 | 17331342 | 17331343 | G | G/T | + | unknown | 0.669561,0.330439, | 21111241 | Sequencing | SHMT1 | rs13341175 | chr17 | 16658683 | 18263022 | nsv155 | 17331508 | 17331509 | G | G/T | + | unknown | 0.692870,0.307130, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs13341175 | chr17 | 16689381 | 18271429 | nsv499114 | 17331508 | 17331509 | G | G/T | + | unknown | 0.692870,0.307130, | 21111241 | Sequencing | SHMT1 | rs141978103 | chr17 | 16658683 | 18263022 | nsv155 | 17331520 | 17331521 | A | A/G | + | unknown | 0.977043,0.022957, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs141978103 | chr17 | 16689381 | 18271429 | nsv499114 | 17331520 | 17331521 | A | A/G | + | unknown | 0.977043,0.022957, | 21111241 | Sequencing | SHMT1 | rs34921720 | chr17 | 16658683 | 18263022 | nsv155 | 17331843 | 17331844 | A | -/A | + | unknown | 0.380037,0.619963, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs34921720 | chr17 | 16689381 | 18271429 | nsv499114 | 17331843 | 17331844 | A | -/A | + | unknown | 0.380037,0.619963, | 21111241 | Sequencing | SHMT1 | rs75602823 | chr17 | 16658683 | 18263022 | nsv155 | 17331910 | 17331911 | T | C/T | + | unknown | 0.017422,0.982578, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs75602823 | chr17 | 16689381 | 18271429 | nsv499114 | 17331910 | 17331911 | T | C/T | + | unknown | 0.017422,0.982578, | 21111241 | Sequencing | SHMT1 | rs7209348 | chr17 | 16658683 | 18263022 | nsv155 | 17331985 | 17331986 | A | A/G | + | unknown | 0.572321,0.427679, | 15895083 | BAC aCGH, PCR, Sequencing | SHMT1 | rs7209348 | chr17 | 16689381 | 18271429 | nsv499114 | 17331985 | 17331986 | A | A/G | + | unknown | 0.572321,0.427679, | 21111241 | Sequencing |