All genomic variants

11499 entries on 115 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     
0000007726 ./. 1 - g.1737951C>G - - - GNB1_000001 - - ; clinvar; - - - LOVD
0000007727 ./. 1 - g.2160306G>T - - - SKI_000001 - - ; clinvar; - - - LOVD
0000007728 ./. 1 - g.2160308C>T - - - SKI_000002 - - ; clinvar; - - - LOVD
0000007729 ./. 1 - g.2160309C>A - - - SKI_000003 - - ; clinvar; - - - LOVD
0000007730 ./. 1 - g.2160485_2160496del - - - chr1_000071 - - ; clinvar; - - - LOVD
0000007731 ./. 1 - g.2340045G>A - - - PEX10_000001 - - ; clinvar; - - - LOVD
0000007732 ./. 1 - g.3102751G>A - - - PRDM16_000021 - - ; clinvar; - - - LOVD
0000007733 ./. 1 - g.3102852G>A - - - PRDM16_000020 - - ; clinvar; - - - LOVD
0000007734 ./. 1 - g.3313138A>C - - - PRDM16_000018 - - ; clinvar; - - - LOVD
0000007735 ./. 1 - g.3319392C>A - - - PRDM16_000019 - - ; clinvar; - - - LOVD
0000007736 ./. 1 - g.3319500C>T - - - PRDM16_000017 - - ; clinvar; - - - LOVD
0000001785 +/+ 1 subst g.3319550C>T - 4.320 - PRDM16_000001 rs397514744 - ; clinvar; 23768516 - - LOVD
0000007737 ./. 1 - g.3322142G>A - - - PRDM16_000010 - - ; clinvar; - - - LOVD
0000007738 ./. 1 - g.3322160C>G - - - PRDM16_000011 - - ; clinvar; - - - LOVD
0000007739 ./. 1 - g.3328124G>A - - - PRDM16_000012 - - ; clinvar; - - - LOVD
0000007740 ./. 1 - g.3328339G>A - - - PRDM16_000013 - - ; clinvar; - - - LOVD
0000007741 ./. 1 - g.3328445G>A - - - PRDM16_000014 - - ; clinvar; - - - LOVD
0000007742 ./. 1 - g.3328738G>A - - - PRDM16_000015 - - ; clinvar; - - - LOVD
0000007743 ./. 1 - g.3329229G>C - - - PRDM16_000016 - - ; clinvar; - - - LOVD
0000007744 ./. 1 - g.3331154C>T - - - PRDM16_000004 - - ; clinvar; - - - LOVD
0000001786 +/+ 1 subst g.3331180T>C - 4.940 - PRDM16_000002 rs202115331 - ; clinvar; 23768516 - - LOVD
0000007745 ./. 1 - g.3334556G>A - - - PRDM16_000005 - - ; clinvar; - - - LOVD
0000007746 ./. 1 - g.3342326G>C - - - PRDM16_000006 - - ; clinvar; - - - LOVD
0000007747 ./. 1 - g.3342611G>A - - - PRDM16_000007 - - ; clinvar; - - - LOVD
0000007748 ./. 1 - g.3342640G>A - - - PRDM16_000008 - - ; clinvar; - - - LOVD
0000001787 +/+ 1 subst g.3347452G>A - 1.660 - PRDM16_000003 rs201654872 - ; clinvar; 23768516 - - LOVD
0000007749 ./. 1 - g.3347517C>T - - - PRDM16_000009 - - ; clinvar; - - - LOVD
0000007750 ./. 1 - g.5925201C>T - - - NPHP4_000001 - - ; clinvar; - - - LOVD
0000007751 ./. 1 - g.5965787G>A - - - chr1_000030 - - ; clinvar; - - - LOVD
0000007752 ./. 1 - g.5967253C>T - - - chr1_000031 - - ; clinvar; - - - LOVD
0000007753 ./. 1 - g.5993305A>T - - - chr1_000032 - - ; clinvar; - - - LOVD
0000007754 ./. 1 - g.6528476G>A - - - PLEKHG5_000001 - - ; clinvar; - - - LOVD
0000007755 ./. 1 - g.6528565G>A - - - chr1_000021 - - ; clinvar; - - - LOVD
0000007756 ./. 1 - g.6529150G>A - - - chr1_000022 - - ; clinvar; - - - LOVD
0000007757 ./. 1 - g.6529182_6529183insTCCTCC - - - chr1_000023 - - ; clinvar; - - - LOVD
0000007758 ./. 1 - g.6529605A>G - - - chr1_000024 - - ; clinvar; - - - LOVD
0000007759 ./. 1 - g.6535195G>T - - - chr1_000025 - - ; clinvar; - - - LOVD
0000007760 ./. 1 - g.7737742C>T - - - chr1_000063 - - ; clinvar; - - - 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
0000007761 ./. 1 - g.10421089G>A - - - KIF1B_000001 - - ; clinvar; - - - LOVD
0000007762 ./. 1 - g.11082521A>G - - - TARDBP_000001 - - ; clinvar; - - - LOVD
0000007763 ./. 1 - g.11082794T>C - - - chr1_000073 - - ; clinvar; - - - LOVD
0000007764 ./. 1 - g.11086758G>A - - - MASP2_000001 - - ; clinvar; - - - LOVD
0000007765 ./. 1 - g.11347198C>T - - - UBIAD1_000003 - - ; clinvar; - - - LOVD
0000007766 ./. 1 - g.11347248G>A - - - UBIAD1_000004 - - ; clinvar; - - - LOVD
0000007767 ./. 1 - g.11347615T>C - - - UBIAD1_000005 - - ; clinvar; - - - LOVD
0000007768 ./. 1 - g.11347682A>G - - - UBIAD1_000001 - - ; clinvar; - - - LOVD
0000007769 ./. 1 - g.11347752C>T - - - chr1_000020 - - ; clinvar; - - - LOVD
0000007770 ./. 1 - g.11347967C>T - - - UBIAD1_000002 - - ; clinvar; - - - LOVD
0000007771 ./. 1 - g.11848084G>A - - - chr1_000081 - - ; clinvar; - - - LOVD
0000007772 ./. 1 - g.11856335G>A - - - chr1_000082 - - ; clinvar; - - - LOVD
0000007773 ./. 1 - g.12026356G>A - - - PLOD1_000001 - - ; clinvar; - - - 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
0000007774 ./. 1 - g.12073110C>T - - - MFN2_000011 - - ; clinvar; - - - LOVD
0000007775 ./. 1 - g.12073161G>A - - - MFN2_000008 - - ; clinvar; - - - LOVD
0000007776 ./. 1 - g.12073198C>T - - - MFN2_000009 - - ; clinvar; - - - LOVD
0000007777 ./. 1 - g.12073328T>G - - - MFN2_000010 - - ; clinvar; - - - LOVD
0000007778 ./. 1 - g.12073416_12073418del - - - MFN2_000006 - - ; clinvar; - - - LOVD
0000007779 ./. 1 - g.12073417_12073419del - - - MFN2_000007 - - ; clinvar; - - - LOVD
0000001661 ?/? 1 subst g.16299312C>T - -0.257 - ZBTB17_000001 rs10927875 - ; - - - LOVD
0000007780 ./. 1 - g.16450920G>A - - - EPHA2_000006 - - ; clinvar; - - - LOVD
0000007781 ./. 1 - g.16451200C>T - - - EPHA2_000007 - - ; clinvar; - - - LOVD
0000007782 ./. 1 - g.16451544C>T - - - EPHA2_000008 - - ; clinvar; - - - LOVD
0000007783 ./. 1 - g.16451722C>T - - - EPHA2_000009 - - ; clinvar; - - - LOVD
0000007784 ./. 1 - g.16451737C>G - - - EPHA2_000002 - - ; clinvar; - - - LOVD
0000007785 ./. 1 - g.16459694T>C - - - EPHA2_000003 - - ; clinvar; - - - LOVD
0000007786 ./. 1 - g.16459832C>T - - - EPHA2_000004 - - ; clinvar; - - - LOVD
0000007787 ./. 1 - g.16475547G>A - - - EPHA2_000005 - - ; clinvar; - - - LOVD
0000007788 ./. 1 - g.16477420C>T - - - EPHA2_000001 - - ; clinvar; - - - LOVD
0000007789 ./. 1 - g.17355132G>C - - - SDHB_000002 - - ; clinvar; - - - LOVD
0000007790 ./. 1 - g.17359553A>T - - - SDHB_000001 - - ; clinvar; - - - LOVD
0000007791 ./. 1 - g.19568918C>T - - - chr1_000080 - - ; clinvar; - - - LOVD
0000007792 ./. 1 - g.21890673C>T - - - ALPL_000004 - - ; clinvar; - - - LOVD
0000007793 ./. 1 - g.21894682C>T - - - ALPL_000002 - - ; clinvar; - - - LOVD
0000007794 ./. 1 - g.21904826A>T - - - ALPL_000003 - - ; clinvar; - - - LOVD
0000007795 ./. 1 - g.21904838C>T - - - ALPL_000001 - - ; clinvar; - - - LOVD
0000007796 ./. 1 - g.22161380G>A - - - HSPG2_000001 - - ; clinvar; - - - LOVD
0000007797 ./. 1 - g.22204700G>A - - - HSPG2_000002 - - ; clinvar; - - - LOVD
0000007798 ./. 1 - g.25633172T>C - - - RHD_000001 - - ; clinvar; - - - LOVD
0000007799 ./. 1 - g.25633210G>A - - - chr1_000011 - - ; clinvar; - - - LOVD
0000007800 ./. 1 - g.26126724_26126748del - - - chr1_000086 - - ; clinvar; - - - LOVD
0000007801 ./. 1 - g.26138024C>T - - - chr1_000013 - - ; clinvar; - - - LOVD
0000007802 ./. 1 - g.26797654C>T - - - chr1_000067 - - ; clinvar; - - - LOVD
0000007803 ./. 1 - g.26797667T>A - - - chr1_000068 - - ; clinvar; - - - LOVD
0000007804 ./. 1 - g.26797726A>T - - - chr1_000069 - - ; clinvar; - - - LOVD
0000007805 ./. 1 - g.27114484C>T - - - chr1_000026 - - ; clinvar; - - - LOVD
0000007806 ./. 1 - g.27117244G>A - - - chr1_000027 - - ; clinvar; - - - LOVD
0000007807 ./. 1 - g.27120626C>T - - - chr1_000028 - - ; clinvar; - - - LOVD
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