Variant Details

Additional information on variants identified in the studies, including the reference genome, genomic location, reference, and alternate alleles, are included in the Variant Details table. Variants are classified according to NCBI Single Nucleotide Polymorphism Database (dbSNP) or Human Genome Variation Society (HGVS) nomenclature.

By clicking on a variant in this table, users can retrieve a tabulated list of pre-computed variant consequences, effects, and allele frequencies.

Variant identifier (dbSNP or HGVS) Reference genome Transcript ID Chromosome Genomic start position Genomic end position Reference allele Alternate allele Variant type Gene Publication Count
rs1800795 GRCh38 NC_000007.14 7 22727026 22727026 C G SNV IL6 4
rs2067853 GRCh38 NC_000001.11 1 230702512 230702512 G A SNV AGT 1
rs2043211 GRCh38 NC_000019.10 19 48234449 48234449 A T SNV CARD8 2
rs1001179 GRCh38 NC_000011.10 11 34438684 34438684 C T SNV CAT 2
rs1143623 GRCh38 NC_000002.12 2 112838252 112838252 C G SNV IL1B 1
rs16944 GRCh38 NC_000002.12 2 112837290 112837290 A G SNV IL1B 4
rs1071676 GRCh38 NC_000002.12 2 112829856 112829856 C G SNV IL1B 1
rs1801133 GRCh38 NC_000001.11 1 11796321 11796321 G A SNV MTHFR 4
rs1808593 GRCh38 NC_000007.14 7 151011214 151011214 G T SNV NOS3 2
rs2070744 GRCh38 NC_000007.14 7 150992991 150992991 C T SNV NOS3 1
rs1799964 GRCh38 NC_000006.12 6 31574531 31574531 T C SNV TNF 1
rs1800896 GRCh38 NC_000001.11 1 206773552 206773552 T C SNV IL10 2
NM_001080463.1:c.3794G>A GRCh37 NM_001080463.1 11 103027166 103027166 G A SNV DYNC2H1 1
NM_153186.5:c.2584G>A GRCh37 NM_153186.5 9 732430 732430 G A SNV KANK1 1
NM_003889.3:c.1087G>A GRCh37 NM_003889.3 3 119534605 119534605 G A SNV NR1I2 1
NM_004846:c.214C>G GRCh37 NM_004846 2 233422672 233422672 C G SNV EIF4E2 1
rs6517135 GRCh38 NC_000021.9 21 33025263 33025263 T C SNV OLIG2 1
rs1217401 GRCh38 NC_000001.11 1 113896329 113896329 A G SNV AP4B1 1
NM_000092.5: c.4720C>T GRCh37 NM_000092.5 2 227872823 227872823 G A SNV COL4A4 1
NM_003073.5:c.1121G>A GRCh37 NM_003073.5 22 24176330 24176330 G A SNV SMARCB1 1
NM_138736.3:c.662C>A GRCh37 NM_138736.3 16 56370711 56370711 C A SNV GNAO1 1
NM_153638.3:c.1412+1G>C GRCh37 NM_153638.3 20 3893282 3893282 G C SNV PANK2 1
NM_006920.6:c.2492_2495delGTTC GRCh37 NM_006920.6 2 166895942 166895942 GTTC - SNV SCN1A 1
NM_001845:c.2263G>A GRCh37 NM_001845 13 110831699 110831699 C T SNV COL4A1 1
rs2069837 GRCh38 NC_000007.14 7 22728408 22728408 A G SNV IL6 2
rs1800796 GRCh38 NC_000007.14 7 22726627 22726627 G C SNV IL6 1
rs2066992 GRCh38 NC_000007.14 7 22728630 22728630 G T SNV IL6 1
rs2069832 GRCh38 NC_000007.14 7 22727814 22727814 A G SNV IL6 1
rs2069833 GRCh38 NC_000007.14 7 22728045 22728045 C T SNV IL6 1
rs1554606 GRCh38 NC_000007.14 7 22729088 22729088 T G SNV IL6 1
rs2069845 GRCh38 NC_000007.14 7 22730530 22730530 G A SNV IL6 1
rs1961495 GRCh38 NC_000013.11 13 110229026 110229026 C T SNV COL4A1 1
rs1411040 GRCh38 NC_000013.11 13 110291574 110291574 C T SNV COL4A1 1
rs4846049 GRCh38 NC_000001.11 1 11790308 11790308 T G SNV MTHFR 1
rs1476413 GRCh38 NC_000001.11 1 11792243 11792243 C T SNV MTHFR 1
rs1801131 GRCh38 NC_000001.11 1 11794419 11794419 T G SNV MTHFR 2
NM_001080463.1:c.6916T>C GRCh37 NM_001080463.1 11 103058091 103058091 T C SNV DYNC2H1 1
NM_001080463:c.G5158A GRCh37 NM_001080463 11 103041621 103041621 G A SNV DYNC2H1 1
NM_001377:c.A9862T GRCh37 NM_001377 11 103114464 103114464 A T SNV DYNC2H1 1
NM_001377.3:c.9968C>G GRCh37 NM_001377.3 11 103116029 103116029 C G SNV DYNC2H1 1
NM_001080463.1:c.5492A>G GRCh37 NM_001080463.1 11 103043968 103043968 A G SNV DYNC2H1 1
NM_153186.5:c.2515G>C GRCh37 NM_153186.5 9 731250 731250 G C SNV KANK1 1
NM_153186.5:c.2398G>A GRCh37 NM_153186.5 9 730224 730224 G A SNV KANK1 1
NM_153186.5:c.3005G>A GRCh37 NM_153186.5 9 738430 738430 G A SNV KANK1 1
NM_153186.5:c.316C>T GRCh37 NM_153186.5 9 711556 711556 C T SNV KANK1 1
NM_153186.5:c.3290C>T GRCh37 NM_153186.5 9 742272 742272 C T SNV KANK1 1
NM_153186.5:c.3569G>A GRCh37 NM_153186.5 9 745219 745219 G A SNV KANK1 1
NM_033013.2:c.944-1G>T GRCh37 NM_033013.2 3 119534572 119534572 G T Splicing NR1I2 1
NM_001276336.1:c.214C>G GRCh37 NM_001276336.1 2 233422672 233422672 C G SNV EIF4E2 1
NM_001276337.1:c.277C>T GRCh37 NM_001276337.1 2 233431575 233431575 C T SNV EIF4E2 1
NM_001845.6:c.2413G>A GRCh37 NM_001845.6 13 110831315 110831315 C T SNV COL4A1 1
NM_001303110.1:c.136G>A GRCh37 NM_001303110.1 13 110895030 110895030 C T SNV COL4A1 1
NM_001845.6:c.4516A>G GRCh37 NM_001845.6 13 110813663 110813663 T C SNV COL4A1 1
NM_001845.6:c.2494G>A GRCh37 NM_001845.6 13 110830543 110830543 C T SNV COL4A1 1
NM_001845.6:c.2447C>T GRCh37 NM_001845.6 13 110831281 110831281 G A SNV COL4A1 1
NM_001845.6:c.4856G>A GRCh37 NM_001845.6 13 110804753 110804753 C T SNV COL4A1 1
rs9651118 GRCh38 NC_000001.11 1 11802157 11802157 T C SNV MTHFR 1
rs1799724 GRCh38 NC_000006.12 6 31574705 31574705 C T SNV TNF 1
rs361525 GRCh38 NC_000006.12 6 31575324 31575324 G A SNV TNF 1
NM_022002.2:c.1172-1G>T GRCh37 NM_022002.2 3 119534572 119534572 G T Splicing NR1I2 1
NM_153186:c.243C>G GRCh37 NM_153186 9 711483 711483 C G SNV KANK1 1
NM_00307:c.110G>A GRCh37 NM_00307 22 None None None None SNV SMARCB1 1
NM_020988:c.724-8G>A GRCh37 NM_020988 16 56385288 56385288 G A SNV GNAO1 1
NM_020988:c.470T>C GRCh37 NM_020988 16 56368646 56368646 T C SNV GNAO1 1
NM_020988:c.626G>A GRCh37 NM_020988 16 56370675 56370675 G A SNV GNAO1 1
NM_020988:c.736G>A GRCh37 NM_020988 16 56385308 56385308 G A SNV GNAO1 1
NM_020988:c.625C>T GRCh37 NM_020988 16 56370674 56370674 C T SNV GNAO1 1
NM_001165963:c.4547C>A GRCh37 NM_001165963 2 166852557 166852557 G T SNV SCN1A 1
NM_001165963:c.2628A>T GRCh37 NM_001165963 2 166894604 166894604 T A SNV SCN1A 1
NM_001165963:c.4172A>G GRCh37 NM_001165963 2 166859094 166859094 T C SNV SCN1A 1
NM_001165963:c.4441G>A GRCh37 NM_001165963 2 166854583 166854583 C T SNV SCN1A 1
NM_001845:c.2373_2383del GRCh37 NM_001845 13 110831345 110831345 ACCCCACGGAG - SNV COL4A1 1
NM_001845:c.3371G>A GRCh37 NM_001845 13 110826828 110826828 C T SNV COL4A1 1
NM_001845:c.2086G>A GRCh37 NM_001845 13 110835349 110835349 C T SNV COL4A1 1
NM_001845:c.3977G>T GRCh37 NM_001845 13 110818623 110818623 C A SNV COL4A1 1
NM_001845:c.3611G>A GRCh37 NM_001845 13 110823025 110823025 C T SNV COL4A1 1
NM_001845:c.3497G>A GRCh37 NM_001845 13 110826255 110826255 C T SNV COL4A1 1
NM_001845:c.3715G>A GRCh37 NM_001845 13 110822921 110822921 C T SNV COL4A1 1
rs3024490 GRCh38 NC_000001.11 1 206771966 206771966 A T SNV IL10 1
rs1800871 GRCh38 NC_000001.11 1 206773289 206773289 A G SNV IL10 1
rs1554286 GRCh38 NC_000001.11 1 206770888 206770888 A T SNV IL10 1
rs1518111 GRCh38 NC_000001.11 1 206771300 206771300 T C SNV IL10 1
rs1800779 GRCh38 NC_000007.14 7 150992855 150992855 G A SNV NOS3 2
NM_138736.3:c.951A>C GRCh37 NM_138736.3 16 56377748 56377748 A C SNV GNAO1 1
NM_001165963.4: c.2522C>T GRCh37 NM_001165963.4 2 166896000 166896000 C T SNV SCN1A 1
NM_001303110.2:c.1258G>A GRCh37 NM_001303110.2 13 110850841 110850841 C T SNV COL4A1 1
NM_001845.6:c.4114G>C GRCh37 NM_001845.6 13 110817245 110817245 C G SNV COL4A1 1
NM_001165963.4:c.4529C>T GRCh37 NM_001165963.4 2 166852575 166852575 G A SNV SCN1A 1
NM_001165963.4:c.4112G>A GRCh37 NM_001165963.4 2 166859154 166859154 C T SNV SCN1A 1
NM_001845.4:c.443G>A GRCh37 NM_001845.4 13 110864019 110864019 C T SNV COL4A1 2
NM_020988.2:c.625C>T GRCh37 NM_020988.2 16 56370674 56370674 C T SNV GNAO1 1
rs1800629 GRCh38 NC_000006.12 6 31575254 31575254 G A SNV TNF 1
rs79704487 GRCh38 NC_000016.10 16 56336763 56336763 G T SNV GNAO1 1
NM_001845.4:c.3607C>G GRCh37 NM_001845.4 13 110823029 110823029 G C SNV COL4A1 1
rs34004222 GRCh38 NC_000013.11 13 110213999 110213999 G A SNV COL4A1 1
rs13027659 GRCh38 NC_000002.12 2 227051131 227051131 C T SNV COL4A4 1
rs190148408 GRCh38 NC_000002.12 2 227008067 227008067 G C SNV COL4A4 1
NM_000092.5:c.4720C>T GRCh37 NM_000092.5 2 227872823 227872823 G A SNV COL4A4 1
NM_00307:c.110G>A GRCh37 NM_00307 22 None None None None SNV SMARCB1 1
NM_001165963.4:c.2522C>T GRCh37 NM_001165963.4 2 166896000 166896000 C T SNV SCN1A 1
rs672601369 GRCh38 NC_000002.12 2 240783780 240783780 C T SNV KIF1A 1
rs552094593 GRCh38 NC_000003.12 3 81537021 81537021 G A SNV GBE1 1
rs1659975786 GRCh38 NC_000001.11 1 229432664 229432664 C T SNV ACTA1 1
NM_014080.4:c.3616G>A GRCh38 NC_000015.10 15 45097691 45097691 C T SNV DUOX2 1
rs181461079 GRCh38 NC_000015.10 15 45103960 45103960 C A SNV DUOX2 2
rs397507545 GRCh38 NC_000012.12 12 112489083 112489083 G A SNV PTPN11 1
rs6103 GRCh38 NC_000018.10 18 63903269 63903269 C G SNV SERPINB2 1
rs1137933 GRCh38 NC_000017.11 17 27778906 27778906 G A SNV NOS2 1
rs727503974 GRCh38 NC_000020.11 20 63439704 63439704 G A SNV KCNQ2 1
SCN9A:c.4652G>A None None None None None None None SNV SCN9A 1
rs200286768 GRCh38 NC_000015.10 15 65003238 65003238 G A SNV MTFMT 1
CDKL5:c.2388_2404DEL None NC_000023.11 None None None None None DEL CDKL5 1
rs373882732 GRCh38 NC_000002.12 2 240785010 240785010 C G SNV KIF1A 1
ISY1:c.607+G>A None None None None None None None None ISY1 1
rs113993960 GRCh38 NC_000007.14 7 117559591 117559594 CTT - DEL CFTR 2
rs78655421 GRCh38 NC_000007.14 7 117530975 117530975 G A SNV CFTR 1
rs6471 GRCh38 NC_000006.12 6 32040110 32040110 G C SNV CYP21A2 1
NM_153638.2:c.735dup GRCh38 NM_153638.2 20 3908030 None C CT DUP PANK2 1
rs1585653240 GRCh38 NC_000007.14 7 70766249 70766249 A C SNV AUTS2 1
rs672601347 GRCh38 NC_000013.11 13 110179298 110179298 C G SNV COL4A1 1
NM_001845.6:c.1537-1G>A GRCh38 NC_000013.11 13 110187330 110187330 C T SNV COL4A1 1
NM_017934.7:c.2514_2517dup GRCh38 NC_000006.12 6 78985372 78985375 G GCCAT DUP PHIP 1
NM_015570.4:c.690+63379A>G GRCh38 NC_000007.14 7 70499160 70499160 A G SNV AUTS2 1
NM_001008222.3:c.881+1G>T GRCh38 NC_000023.11 X 129811405 129811405 C A SNV ZDHHC9 1
rs2139162955 GRCh38 NC_000013.11 13 110176885 110176885 C T SNV COL4A1 1
rs1594566006 GRCh38 NC_000013.11 13 110192241 None A - DEL COL4A1 1
NM_138736.3:c.711A>C GRCh38 NC_000016.10 16 56336848 56336848 A C SNV GNAO1 1
NM_015570.4:c.1864_1865insCTGGCCGGCAACGGCACGACGACCGGCACCGCGCGCTATCGCGGCGACAACCTGCTCGACATGAATACGCGCGCGCTGAACGCGGT GRCh38 NC_000007.14 7 70774061 70774062 G CTGGCCGGCAACGGCACGACGACCGGCACCGCGCGCTATCGCGGCGACAACCTGCTCGACATGAATACGCGCGCGCTGAACGCGGT INS AUTS2 1
NM_001845.6:c.2147del GRCh38 NC_000013.11 13 110181337 110181340 CG C DEL COL4A1 1
rs1877827904 GRCh38 NC_000013.11 13 110175229 110175229 G A SNV COL4A1 1
NM_138736.3:c.788C>T GRCh38 NC_000016.10 16 56340898 56340898 C T SNV GNAO1 1
rs539662922 GRCh38 NC_000016.10 16 56328715 56328715 C T SNV GNAO1 1
NM_020988.3:c.164T>A GRCh38 NC_000016.10 16 56275933 56275933 T A SNV GNAO1 1
NM_172107.4:c.881C>T GRCh38 NC_000020.11 20 63439644 63439644 G A SNV KCNQ2 2
rs796052622 GRCh38 NC_000020.11 20 63444750 63444750 A G SNV KCNQ2 1
rs397515420 GRCh38 NC_000020.11 20 63413577 63413577 T C SNV KCNQ2 1
rs879253888 GRCh38 NC_000002.12 2 240783777 240783777 G A SNV KIF1A 2
NM_001244008.1:c.2977+2T>C GRCh38 NC_000002.12 2 240750427 240750427 A G SNV KIF1A 1
rs1057518226 GRCh38 NC_000002.12 2 240783105 240783105 C T SNV KIF1A 1
rs771126523 GRCh38 NC_000006.12 6 79025519 79025527 TTTAT - DEL PHIP 1
rs1057521746 GRCh38 NC_000002.12 2 166009753 166009753 G T SNV SCN1A 1
rs147540920 GRCh38 NC_000015.10 15 45099686 45099686 C A SNV DUOX2 1
NM_001363711.2:c.2202G>A GRCh38 NC_000015.10 15 45105775 45105775 C T SNV DUOX2 1
rs61753251 GRCh38 NC_000023.11 X 18628509 18628510 CT - DEL CDKL5 1
rs267608433 GRCh38 NC_000023.11 X 18575368 18575374 GAAA - SNV CDKL5 1
rs1085307876 GRCh38 NC_000016.10 16 56351376 56351376 G A SNV GNAO1 1
rs886039494 GRCh38 NC_000016.10 16 56336762 56336762 C T SNV GNAO1 1
rs2139156247 GRCh38 NC_000013.11 13 110170697 110170697 C T SNV COL4A1 1
rs3136558 GRCh38 NC_000002.12 2 112833698 112833698 A G SNV IL1B 1
rs797044951 GRCh38 NC_000016.10 16 56351396 56351396 G A SNV GNAO1 1
rs1057518760 GRCh38 NC_000002.12 2 241727599 241727599 C T SNV KIF1A 1
rs797045050 GRCh38 NC_000002.12 2 240797715 240797715 C T SNV KIF1A 1
rs1553638086 GRCh38 NC_000002.12 2 240783764 240783764 G A SNV KIF1A 1
rs548204329 GRCh38 NC_000002.12 2 240797722 240797722 G A SNV KIF1A 1
rs1064795534 GRCh38 NC_000002.12 2 240788110 240788110 C T SNV KIF1A 1
NM_001244008.2:c.641G>C GRCh38 NC_000002.12 2 240785068 240785068 C G SNV KIF1A 1
rs797045655 GRCh38 NC_000002.12 2 240783087 240783087 G A SNV KIF1A 1
NM_001845.6:c.1466-1G>A GRCh38 NC_000013.11 13 110192285 110192285 C T SNV COL4A1 1
rs2139162750 GRCh38 NC_000013.11 13 110176706 110176706 C T SNV COL4A1 1
rs1555303010 GRCh38 NC_000013.11 13 110176450 110176450 C T SNV COL4A1 1
NM_001845.6:c.1728_1738delinsCCAAGGG GRCh38 NC_000013.11 13 110186545 110187138 - TACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACC:CCTTGG INS COL4A1 1
NM_172107.4:c.2326delC GRCh38 NC_000020.11 20 63406937 63406937 CG C DEL KCNQ2 1
rs772800738 GRCh38 NC_000020.11 20 63433878 63433878 T A SNV KCNQ2 1
rs587777219 GRCh38 NC_000020.11 20 63442428 63442428 G A SNV KCNQ2 1
NM_003159.3:c.1730_1731dupTG GRCh38 NC_000023.11 X 18604654 18604655 A ATG INS CDKL5 1
NM_172107.4:c.1527delA GRCh38 NC_000020.11 20 63414193 63414193 CT C DEL KCNQ2 1
NM_172107.4:c.172C>A GRCh38 NC_000020.11 20 63472292 63472292 G T SNV KCNQ2 1
rs118192203 GRCh38 NC_000020.11 20 63444712 63444712 G A SNV KCNQ2 1
rs201750561 GRCh38 NC_000020.11 20 63419667 63419667 C A SNV KCNQ2 1
rs201431517 GRCh38 NC_000015.10 15 65021533 65021533 G A SNV MTFMT 1
rs267608395 GRCh38 NC_000023.11 X 18604599 18604599 C T SNV CDKL5 1
NM_016032.4:c.777+1G>A GRCh38 NC_000023.11 X 129812717 129812717 C T SNV ZDHHC9 1
NM_015570:c.1297_1300CCT GRCh38 NC_000007.14 7 None None None None None AUTS2 1
rs797045164 GRCh38 NC_000002.12 2 240785063 240785063 G A SNV KIF1A 1
rs672601370 GRCh38 NC_000002.12 2 240775863 240775863 G A SNV KIF1A 2
rs1553639011 GRCh38 NC_000002.12 2 240788106 240788106 T G SNV KIF1A 1
NM_017934.7:c.3782+2AAGT>- GRCh38 NC_000006.12 6 None None None None None PHIP 1
NM_017934.7:c.600+1G>- GRCh38 NC_000006.12 6 None None None None None PHIP 1
rs1554480537 GRCh38 NC_000007.14 7 70763073 70763073 C T SNV AUTS2 1
rs1064793161 GRCh38 NC_000002.12 2 240775889 240775889 C T SNV KIF1A 1
rs876661202 GRCh38 NC_000002.12 2 241724476 241724476 G C SNV KIF1A 1
rs1553639041 GRCh38 NC_000002.12 2 240788160 240788160 G T SNV KIF1A 1
rs1553638614 GRCh38 NC_000002.12 2 240786348 240786348 C T SNV KIF1A 1
rs397507520 GRCh38 NC_000012.12 12 112453279 112453279 G C SNV PTPN11 1
NM_002834.5:c.1387A>G GRCh38 NC_000012.12 12 112488450 112488450 A G SNV PTPN11 1
rs1177392425 GRCh38 NC_000023.11 X 129841875 129841875 C T SNV ZDHHC9 1
rs387906799 GRCh38 NC_000002.12 2 240788118 240788118 G A SNV KIF1A 1
rs375509312 GRCh38 NC_000002.12 2 240717372 240717372 G A SNV KIF1A 1