Unique variants in gene ABCA5

Information The variants shown are described using the transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Reported     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Depth     

Owner     
./. 1 g.69314445_69314448del dbSNP ABCA5_000064 0.004717 1 212 1735 Admin
./. 1 g.69314375G>A dbSNP ABCA5_000062 0.004717 1 212 2155 Admin
./. 1 g.69314311T>A dbSNP ABCA5_000059 0.004717 1 212 1078 Admin
./. 1 g.69313157T>C dbSNP ABCA5_000057 0.004717 1 212 2454 Admin
./. 1 g.69309223C>T dbSNP ABCA5_000078 0.1 21 210 908 Admin
./. 1 g.69308520C>A dbSNP ABCA5_000077 0.028 5 178 279 Admin
./. 1 g.69308306C>T dbSNP ABCA5_000076 0.137 29 212 3287 Admin
./. 1 g.69308223G>A dbSNP ABCA5_000075 0.004717 1 212 858 Admin
./. 1 g.69306914G>A dbSNP ABCA5_000074 0.004717 1 212 2447 Admin
./. 1 g.69301233T>C - ABCA5_000072 0.004717 1 212 1009 Admin
./. 1 g.69301049_69301051del dbSNP ABCA5_000070 0.004808 1 208 537 Admin
./. 1 g.69301035T>C dbSNP ABCA5_000068 0.346 65 188 415 Admin
./. 1 g.69297439C>G dbSNP ABCA5_000066 0.187 25 134 198 Admin
./. 1 g.69297394A>G dbSNP ABCA5_000063 0.965 193 200 546 Admin
./. 1 g.69297373A>G dbSNP ABCA5_000061 0.004717 1 212 731 Admin
./. 1 g.69294699T>C dbSNP ABCA5_000058 0.137 29 212 1812 Admin
./. 1 g.69294639T>C - ABCA5_000056 0.004717 1 212 2552 Admin
./. 1 g.69294503C>A dbSNP ABCA5_000054 0.144 25 174 278 Admin
./. 1 g.69291393T>C dbSNP ABCA5_000052 0.071 15 210 838 Admin
./. 1 g.69291217A>G dbSNP ABCA5_000049 0.038 8 212 965 Admin
./. 1 g.69291186_69291187insT dbSNP ABCA5_000046 0.278 50 180 448 Admin
./. 1 g.69290067_69290070del dbSNP ABCA5_000043 0.009615 2 208 - Admin
./. 1 g.69289848T>C dbSNP ABCA5_000040 0.009434 2 212 1051 Admin
./. 1 g.69289813T>C dbSNP ABCA5_000037 0.004762 1 210 531 Admin
./. 1 g.69289120C>T dbSNP ABCA5_000034 0.052 11 212 1356 Admin
./. 1 g.69289065A>G dbSNP ABCA5_000030 0.015 3 204 444 Admin
./. 1 g.69287535C>T dbSNP ABCA5_000027 0.033 7 212 996 Admin
./. 1 g.69286255G>T - ABCA5_000024 0.004717 1 212 1930 Admin
./. 1 g.69286254A>T - ABCA5_000021 0.004717 1 212 1925 Admin
./. 1 g.69286230T>C dbSNP ABCA5_000073 0.004717 1 212 1862 Admin
./. 1 g.69286191T>C dbSNP ABCA5_000071 0.429 91 212 1501 Admin
./. 1 g.69284169A>C dbSNP ABCA5_000069 0.966 85 88 148 Admin
./. 1 g.69284084A>C dbSNP ABCA5_000067 0.057 12 212 1150 Admin
./. 1 g.69284043T>C dbSNP ABCA5_000065 0.004717 1 212 2014 Admin
./. 1 g.69283915A>T dbSNP ABCA5_000060 0.014 3 212 1259 Admin
./. 1 g.69283838A>C dbSNP ABCA5_000055 0.107 13 122 134 Admin
./. 1 g.69283818_69283819insAGTA dbSNP ABCA5_000053 1 30 30 68 Admin
./. 1 g.69277913C>A dbSNP ABCA5_000050 0.282 35 124 162 Admin
./. 1 g.69277741C>A dbSNP ABCA5_000047 0.825 175 212 2324 Admin
./. 1 g.69271176T>C dbSNP ABCA5_000045 0.439 93 212 2559 Admin
./. 1 g.69270519A>G dbSNP ABCA5_000042 0.009434 2 212 658 Admin
./. 1 g.69270481C>T dbSNP ABCA5_000039 0.082 16 196 308 Admin
./. 1 g.69268111_69268122del dbSNP ABCA5_000036 0.099 20 202 840 Admin
./. 1 g.69267938_69267939insT dbSNP ABCA5_000033 0.004717 1 212 2838 Admin
./. 1 g.69267845G>A dbSNP ABCA5_000031 0.009524 2 210 540 Admin
./. 1 g.69264785A>G dbSNP ABCA5_000028 0.42 89 212 1726 Admin
./. 1 g.69261671T>C dbSNP ABCA5_000025 0.019 4 212 1938 Admin
./. 1 g.69261549_69261551del dbSNP ABCA5_000022 0.05 9 180 282 Admin
./. 1 g.69261388C>G dbSNP ABCA5_000019 0.017 3 178 241 Admin
./. 1 g.69261327G>A dbSNP ABCA5_000017 0.004762 1 210 755 Admin
./. 1 g.69261326C>T dbSNP ABCA5_000016 0.043 9 210 785 Admin
./. 1 g.69261172T>C dbSNP ABCA5_000014 0.009434 2 212 1940 Admin
./. 1 g.69261140C>T dbSNP ABCA5_000012 0.033 7 212 1319 Admin
./. 1 g.69260441C>T dbSNP ABCA5_000009 0.004717 1 212 1648 Admin
./. 1 g.69260203C>T dbSNP ABCA5_000051 0.004717 1 212 730 Admin
./. 1 g.69259856T>G dbSNP ABCA5_000048 0.004717 1 212 2754 Admin
./. 1 g.69259836_69259838del dbSNP ABCA5_000044 0.009434 2 212 3062 Admin
./. 1 g.69259679T>C dbSNP ABCA5_000041 0.009434 2 212 872 Admin
./. 1 g.69256272G>A dbSNP ABCA5_000038 0.004717 1 212 1417 Admin
./. 1 g.69256237C>T dbSNP ABCA5_000035 0.009434 2 212 2625 Admin
./. 1 g.69256134C>T dbSNP ABCA5_000032 0.066 14 212 3122 Admin
./. 1 g.69256104C>T dbSNP ABCA5_000029 0.009434 2 212 2406 Admin
./. 1 g.69256096C>A - ABCA5_000026 0.004717 1 212 2095 Admin
./. 1 g.69256095T>A dbSNP ABCA5_000023 0.004717 1 212 2059 Admin
./. 1 g.69256091del - ABCA5_000020 0.004717 1 212 1879 Admin
./. 1 g.69255854A>G dbSNP ABCA5_000018 0.038 8 210 895 Admin
./. 1 g.69255766C>T dbSNP ABCA5_000015 0.009434 2 212 2515 Admin
./. 1 g.69255719A>C dbSNP ABCA5_000013 0.009434 2 212 2063 Admin
./. 1 g.69255650_69255651insA dbSNP ABCA5_000011 0.009434 2 212 1108 Admin
./. 1 g.69254298A>G dbSNP ABCA5_000010 0.009434 2 212 3029 Admin
./. 1 g.69253781T>C dbSNP ABCA5_000008 0.175 37 212 1919 Admin
./. 1 g.69253458C>T dbSNP ABCA5_000007 0.023 3 130 116 Admin
./. 1 g.69251906_69251909del dbSNP ABCA5_000006 0.009524 2 210 - Admin
./. 1 g.69250354_69250355insAT dbSNP ABCA5_000005 0.036 7 194 323 Admin
./. 1 g.69249902T>C dbSNP ABCA5_000004 0.004717 1 212 1795 Admin
./. 1 g.69249803C>T dbSNP ABCA5_000003 0.053 11 206 928 Admin
./. 1 g.69249800G>A dbSNP ABCA5_000002 0.907 185 204 858 Admin
./. 1 g.69248206C>T dbSNP ABCA5_000001 0.004854 1 206 578 Admin
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