View all genomic variants

3987 entries on 40 pages. Showing entries 1 - 100.
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Variant ID     

Effect     

Chr     

Type     

AscendingDNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
0000001785 +/+ 1 subst g.3319550C>T - 4.320 - PRDM16_000001 rs397514744 - ; clinvar; 23768516 - - LOVD
0000001786 +/+ 1 subst g.3331180T>C - 4.940 - PRDM16_000002 rs202115331 - ; clinvar; 23768516 - - LOVD
0000001787 +/+ 1 subst g.3347452G>A - 1.660 - PRDM16_000003 rs201654872 - ; clinvar; 23768516 - - LOVD
0000000001 +/+ 1 subst g.10032156G>A - 2.990 - NMNAT1_000008 - - ; - - - LOVD
0000001576 +?/+? 1 subst g.10032168G>A - 3.920 - NMNAT1_000009 rs138613460 - ; ensembl; - - - LOVD
0000000002 +/+ 1 subst g.10042370G>T - 2.040 - NMNAT1_000007 - - ; - - - LOVD
0000000003 +/+ 1 subst g.10042376C>G - -6.280 - NMNAT1_000005 - - ; - - - LOVD
0000000004 +/+ 1 subst g.10042538C>T - 2.950 - NMNAT1_000006 rs142968179 - ; clinvar; ensembl; 22842229;22842230 - - LOVD
0000000005 +/+ 1 subst g.10042629G>T - 3.100 - NMNAT1_000001 - - ; - - - LOVD
0000000006 +/+ 1 subst g.10042688G>A - 5.010 - NMNAT1_000002 rs150726175 - ; clinvar; ensembl; 22842231;22842229;20301475;22842227;22842230 - - LOVD
0000000007 +/+ 1 subst g.10042736A>G - 3.790 - NMNAT1_000003 - - ; - - - LOVD
0000000008 +/+ 1 subst g.10042757T>C - -0.802 - NMNAT1_000004 - - ; - - - LOVD
0000000009 +/+ 1 subst g.12052716C>T - 3.570 - MFN2_000005 rs119103263 - ; 16835246;16437557;15064763 - - LOVD
0000000010 +/+ 1 subst g.12052746C>T - 2.200 - MFN2_000003 rs119103268 - ; 18425620;18946002;25025039;21840889;21531138 - - LOVD
0000000011 +/+ 1 subst g.12058844C>T - 5.200 - MFN2_000004 rs119103266 - ; 16437557 - - LOVD
0000000012 +/+ 1 subst g.12061468A>G - 5.230 - MFN2_000001 rs119103264 - ; 16437557 - - LOVD
0000000013 +/+ 1 subst g.12062090C>T - 4.700 - MFN2_000002 rs119103265 - ; 16437557;16835246 - - LOVD
0000001661 ?/? 1 subst g.16299312C>T - -0.257 - ZBTB17_000001 rs10927875 - ; - - - LOVD
0000000014 +/+ 1 subst g.33478805T>A - 5.510 - AK2_000007 rs267606646 - ; clinVar; Ensembl; 19043416 - - LOVD
0000000015 +/+ 1 subst g.33478946G>A - 5.170 - AK2_000008 rs267606645 - ; clinVar; Ensembl; 19043416 - - LOVD
0000000016 +/+ 1 subst g.33478954A>T - 5.170 - AK2_000009 rs267606644 - ; clinVar; Ensembl; 19043416 - - LOVD
0000000017 +/+ 1 subst g.33480127T>C - 5.120 - AK2_000001 rs267606643 - ; clinVar; Ensembl; 19043416 - - LOVD
0000000018 +/+ 1 subst g.33487217G>A - 4.460 - AK2_000002 rs267606648 - ; clinVar; Ensembl; 19043416 - - LOVD
0000000019 +/+ 1 subst g.33487217G>T - 4.460 - AK2_000003 rs267606648 - ; clinVar; Ensembl; 19043416 - - LOVD
0000000020 +/+ 1 del g.33490144del - 5.150 - AK2_000004 rs387906581 - ; clinVar; Ensembl; 19043417 - - LOVD
0000001795 +/+ 1 subst g.33502405C>A - 0.873 - AK2_000010 rs267606647 - ; clinVar; Ensembl; 19043416 - - LOVD
0000000021 +/+ 1 subst g.33502405C>T - 0.873 - AK2_000005 rs267606647 - ; 19043416 - - LOVD
0000000022 +/+ 1 subst g.33502429T>C - 4.920 - AK2_000006 rs137853206 - ; clinVar; Ensembl; 19043417 - - LOVD
0000001797 +/+ 1 subst g.43868893C>T - 4.800 - SZT2_000002 rs397515489 - ; clinvar; 23932106 - - LOVD
0000001798 +/+ 1 subst g.43888824C>T - 4.080 - SZT2_000001 rs397515490 - ; clinvar; 23932106 - - LOVD
0000000023 +/+ 1 subst g.53662764C>A - 4.690 - CPT2_000011 rs28936375 - ; clinvar; ensembl; 12410208;7711730 - - LOVD
0000000024 +/+ 1 subst g.53668099C>T - 5.880 - CPT2_000012 rs74315294 - ; clinvar; ensembl; 10398215;8786066;8358442;8651281;23757202;736528 - - LOVD
0000000025 +/+ 1 subst g.53675705A>G - 5.690 - CPT2_000013 rs121918528 - ; clinvar; ensembl; 18550408 - - LOVD
0000000026 +/+ 1 subst g.53675866G>A - 5.600 - CPT2_000008 rs28936674 - ; clinvar; ensembl; 8682496 - - LOVD
0000000027 +/+ 1 subst g.53675984A>G - 5.500 - CPT2_000009 rs74315300 - ; clinvar; ensembl; 15622536 - - LOVD
0000000028 +/+ 1 subst g.53676026C>T - 5.500 - CPT2_000010 rs74315298 - ; clinvar; ensembl; 18550408 - - LOVD
0000000029 +/+ 1 subst g.53676494T>A - 4.690 - CPT2_000007 rs74315295 - ; clinvar; ensembl; 17709715;8682496 - - LOVD
0000000030 +/+ 1 del g.53676584_53676585del - - - CPT2_000003 rs397509431 - ; clinvar; 10090476;11477613;12410208 - - LOVD
0000000031 +/+ 1 subst g.53676688T>C - 5.780 - CPT2_000004 rs74315297 - ; clinvar; ensembl; 12410208;10090476;11477613 - - LOVD
0000000032 +/+ 1 subst g.53676706G>T - 4.870 - CPT2_000005 rs74315299 - ; clinvar; ensembl; 15622536 - - LOVD
0000001809 +?/+? 1 subst g.53678936G>A - 5.900 - CPT2_000014 rs186044004 - ; ensembl; - - - LOVD
0000000033 +/+ 1 subst g.53678947G>A - 5.900 - CPT2_000006 rs28936376 - ; clinvar; ensembl; 7711730 - - LOVD
0000000034 +/+ 1 subst g.53679173A>C - 5.900 - CPT2_000001 rs28936673 - ; clinvar; ensembl; 8651281;10398215;1999498 - - LOVD
0000000035 +/+ 1 subst g.53679181C>T - 5.900 - CPT2_000002 rs74315293 - ; clinvar; ensembl; 1528846;8358442 - - LOVD
0000000036 +?/+? 1 subst g.66102080C>G - 2.940 - LEPR_000001 rs193922650 - ; clinVar; Ensembl; - - - LOVD
0000000037 +?/+? 1 subst g.66102080C>T - 2.940 - LEPR_000002 rs193922650 - ; - - - LOVD
0000000038 -?/-? 1 subst g.66102617A>G - -8.340 - LEPR_000003 rs61781316 - ; clinVar; - - - LOVD
0000000039 -?/-? 1 subst g.66102623C>T - 3.500 - LEPR_000004 rs193922651 - ; clinVar; - - - LOVD
0000000040 +/+ 1 subst g.68895518G>A - 3.140 - RPE65_000001 rs121917745 - ; 15557452 - - LOVD
0000001817 +/+ 1 subst g.68897002G>A - 5.130 - RPE65_000007 rs34627040 - ; clinvar; ensembl; - - - LOVD
0000000041 +/+ 1 subst g.68897011T>C - 5.130 - RPE65_000002 rs62636300 - ; 14962443 - - LOVD
0000000042 +/+ 1 subst g.68903896A>G - 5.710 - RPE65_000003 rs62653011 - ; 12960219;13616783;11786058 - - LOVD
0000001820 -/- 1 subst g.68904660A>C - -0.301 - RPE65_000006 rs149916178 - ; clinvar; ensembl; 19431183;23757202 - - LOVD
0000000043 +/+ 1 subst g.68904716T>A - 5.150 - RPE65_000004 rs61752904 - ; 14962443 - - LOVD
0000000044 +/+ 1 subst g.68905269G>A - 5.800 - RPE65_000005 rs61752895 - ; 9326927 - - LOVD
0000000045 +/+ 1 subst g.76198409T>C - 4.450 - ACADM_000012 rs121434280 - ; clinvar; 18241067;11409868;11349232;15479234 - - LOVD
0000000046 +/+ 1 subst g.76199288C>T - 5.690 - ACADM_000001 rs121434283 - ; clinvar; 11349232;17273963 - - LOVD
0000000047 +/+ 1 subst g.76200535G>A - 5.630 - ACADM_000002 rs121434277 - ; clinvar; 1684086 - - LOVD
0000000048 +/+ 1 subst g.76205773A>G - 5.460 - ACADM_000003 rs121434279 - ; clinvar; 9158144;9882619 - - LOVD
0000000049 +/+ 1 subst g.76205779G>A - 5.460 - ACADM_000004 rs121434278 - ; clinvar; 23757202;7929823;18241067 - - LOVD
0000000050 +/+ 1 subst g.76215125T>C - 5.860 - ACADM_000005 rs121434276 - ; clinvar; 1684086 - - LOVD
0000000051 +/+ 1 subst g.76215129C>T - 5.860 - ACADM_000006 rs121434281 - ; clinvar; 11409868;23757202 - - LOVD
0000000052 +/+ 1 subst g.76215194G>A - 5.730 - ACADM_000007 rs121434274 - ; clinvar; 1684086 - - LOVD
0000000053 +/+ 1 subst g.76215237G>C - 5.730 - ACADM_000008 rs121434282 - ; clinvar; 11486912 - - LOVD
0000000054 +/+ 1 subst g.76226846A>G - 5.210 - ACADM_000009 rs77931234 - ; clinvar; 11486912;1447668;23574375;8682492;8770876;11346377;1361190;1570195;18241067;1902818;{PMID:23757202:23 - - LOVD
0000005167 +/+ 1 subst g.76226846A>G - 5.210 - ACADM_000009 rs77931234 - ; ensembl; 11486912;1447668;23574375;8682492;8770876;11346377;1361190;1570195;18241067;1902818;{PMID:23757202:23 - - LOVD
0000000055 +/+ 1 del g.76226963_76226966del - - - ACADM_000010 rs387906297 - ; clinvar; 1729890;1356169;23757202 - - LOVD
0000000056 +/+ 1 subst g.76226985T>C - 5.210 - ACADM_000011 rs121434275 - ; clinvar; 1684086 - - LOVD
0000001835 +/+ 1 subst g.78408317C>A - 5.840 - NEXN_000002 rs137853198 - ; clinvar; 19881492 - - LOVD
0000001836 +/+ 1 subst g.78408441A>G - 5.840 - NEXN_000001 rs137853197 - ; clinvar; 20970104;19881492 - - LOVD
0000000057 ?/? 1 del g.85733375_85733377del - - - BCL10_000001 - - ; - - - LOVD
0000000058 ?/? 1 del g.85733471_85733487del - - - BCL10_000002 - - ; - - - LOVD
0000000059 ?/? 1 ins g.85733584_85733585insAA - - - BCL10_000003 - - ; - - - LOVD
0000000060 ?/? 1 del g.85733602del - 4.850 - BCL10_000004 - - ; - - - LOVD
0000000061 ?/? 1 ins g.85733613_85733614insA - - - BCL10_000005 - - ; - - - LOVD
0000000062 ?/? 1 ins g.85736415_85736416insT - - - BCL10_000006 - - ; - - - LOVD
0000000063 +/+ 1 subst g.115256529T>A - 5.080 - NRAS_000004 NA - ; - - - LOVD
0000000064 +/+ 1 subst g.115256529T>C - 5.080 - NRAS_000005 - - ; - - - LOVD
0000000065 +/+ 1 subst g.115256529T>G - 5.080 - NRAS_000006 NA - ; - - - LOVD
0000000066 +/+ 1 subst g.115258681G>A - 5.450 - NRAS_000007 - - ; - - - LOVD
0000000067 +/+ 1 subst g.115258747C>A - 5.580 - NRAS_000001 NA - ; - - - LOVD
0000000068 +/+ 1 subst g.115258747C>G - 5.580 - NRAS_000002 NA - ; - - - LOVD
0000000069 +/+ 1 subst g.115258747C>T - 5.580 - NRAS_000003 - - ; - - - LOVD
0000000071 +/+ 1 subst g.120293453C>T - 4.390 - HMGCS2_000001 rs137852639 - ; clinVar; Ensembl; 11479731 - - LOVD
0000000072 +/+ 1 subst g.120295927G>A - 3.510 - HMGCS2_000002 rs137852637 - ; clinVar; Ensembl; 11228257;9727719 - - LOVD
0000000073 +/+ 1 subst g.120302538C>T - 5.320 - HMGCS2_000003 rs137852638 - ; clinVar; Ensembl; 11479731 - - LOVD
0000000074 +/+ 1 subst g.120306834A>G - 5.040 - HMGCS2_000004 rs137852636 - ; clinVar; Ensembl; 11228257;9337379 - - LOVD
0000000075 +/+ 1 subst g.120306854T>C - 5.040 - HMGCS2_000005 rs137852640 - ; clinVar; Ensembl; 12647205 - - LOVD
0000000076 +/+ 1 subst g.120307194C>T - 4.720 - HMGCS2_000006 rs28937320 - ; clinVar; Ensembl; 12647205 - - LOVD
0000000077 +/+ 1 subst g.145416614G>T - 5.440 - HFE2_000001 rs74315323 - ; 19796184;12891378;14647275;14982873;15461631;15811010 - - LOVD
0000000078 +/+ 1 subst g.145416618C>A - 2.380 - HFE2_000002 rs121434374 - ; 15461631;15138164 - - LOVD
0000000079 +/+ 1 subst g.150464141A>G - 2.110 - TARS2_000002 NA - ; - - - LOVD
0000000080 +/+ 1 subst g.150469028C>T - 4.920 - TARS2_000001 NA - ; - - - LOVD
0000001600 +/+ 1 subst g.156084725C>T - 4.810 - LMNA_000037 rs61046466 - ; clinvar; 10080180;11138304;20301717 - - LOVD
0000001601 -/- 1 subst g.156084760C>T - 2.890 - LMNA_000038 rs11549668 - ; clinvar; 23757202 - - LOVD
0000001602 +?/+? 1 subst g.156084863C>G - 4.770 - LMNA_000039 rs397517895 - ; clinvar; - - - LOVD
0000001603 +/+ 1 subst g.156084887C>G - 3.870 - LMNA_000040 rs28928900 - ; clinvar; 12196663;10580070;19768759;23427149;20041886 - - LOVD
0000001604 +/+ 1 subst g.156084963T>G - 4.770 - LMNA_000041 rs28933090 - ; clinvar; 10580070 - - LOVD
0000001605 +?/+? 1 subst g.156084975G>A - 3.870 - LMNA_000042 rs59040894 - ; clinvar; - - - LOVD
0000001606 +?/+? 1 subst g.156084975G>T - 3.870 - LMNA_000043 rs59040894 - ; clinvar; - - - LOVD
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