Full data view for gene ABCA3

Information The variants shown are described using the NM_001089.2 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
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Effect     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Depth     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. Unknown g.2328662G>C dbSNP ABCA3_000097 0.055 11 200 605 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2328595C>T dbSNP ABCA3_000096 0.061 13 212 2005 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2328493G>A dbSNP ABCA3_000095 0.004717 1 212 3517 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2328455G>C dbSNP ABCA3_000094 0.004717 1 212 3266 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2328443A>T dbSNP ABCA3_000093 0.004717 1 212 3042 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2326475T>C dbSNP ABCA3_000092 0.019 4 212 3869 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2326362G>A dbSNP ABCA3_000091 0.004717 1 212 3764 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2326348A>G dbSNP ABCA3_000090 0.009434 2 212 3844 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2326053G>A dbSNP ABCA3_000089 0.004717 1 212 2316 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2325960C>T dbSNP ABCA3_000088 0.867 170 196 529 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2324622C>T dbSNP ABCA3_000087 0.009434 2 212 1475 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2324611C>A dbSNP ABCA3_000085 0.004717 1 212 1835 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2324548C>T dbSNP ABCA3_000083 0.009434 2 212 3695 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2324480T>C dbSNP ABCA3_000081 0.004717 1 212 3687 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2324458G>A dbSNP ABCA3_000079 0.004717 1 212 3268 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2324405G>A dbSNP ABCA3_000077 0.004717 1 212 1528 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2324393G>A dbSNP ABCA3_000075 0.028 6 212 1216 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2323785C>A dbSNP ABCA3_000073 0.858 175 204 626 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2323686C>T dbSNP ABCA3_000071 0.042 9 212 2595 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2323483A>C dbSNP ABCA3_000069 0.009434 2 212 788 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2319773G>A dbSNP ABCA3_000067 0.014 3 212 4166 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2319514C>T dbSNP ABCA3_000065 0.004717 1 212 994 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2319484_2319485insA dbSNP ABCA3_000064 0.422 27 64 187 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317634G>A dbSNP ABCA3_000063 0.009434 2 212 4073 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317508G>T dbSNP ABCA3_000061 0.165 35 212 3488 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317487C>T dbSNP ABCA3_000086 0.014 3 212 2495 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317444G>C dbSNP ABCA3_000084 0.024 5 212 2024 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317423G>A dbSNP ABCA3_000082 0.123 26 212 2083 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317335G>A dbSNP ABCA3_000080 0.113 24 212 3932 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317240T>C dbSNP ABCA3_000078 0.004717 1 212 3271 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317225C>T dbSNP ABCA3_000076 0.009434 2 212 2822 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317201C>T dbSNP ABCA3_000074 0.004717 1 212 1917 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317189C>T dbSNP ABCA3_000072 0.024 5 212 1540 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2317184C>T - ABCA3_000070 0.004717 1 212 1415 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2308312C>T dbSNP ABCA3_000068 0.137 29 212 857 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2303971T>A dbSNP ABCA3_000066 0.004717 1 212 2337 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2303898C>G dbSNP ABCA3_000064 0.009434 2 212 0 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2299939C>T dbSNP ABCA3_000062 0.00495 1 202 491 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2299422G>A dbSNP ABCA3_000060 0.004717 1 212 4148 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2299370T>C dbSNP ABCA3_000059 0.453 96 212 3908 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2298656A>G dbSNP ABCA3_000058 0.325 50 154 243 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2298618_2298621del dbSNP ABCA3_000057 0.015 3 194 423 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2298606_2298607insC dbSNP ABCA3_000056 - - - - DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2298527G>C dbSNP ABCA3_000055 0.132 28 212 2262 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2298516C>T dbSNP ABCA3_000054 0.009434 2 212 2499 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2298413G>A dbSNP ABCA3_000053 0.009434 2 212 3743 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2298337C>T dbSNP ABCA3_000052 0.004717 1 212 2217 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2298330A>G - ABCA3_000051 0.004717 1 212 2018 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2297604C>T dbSNP ABCA3_000050 0.004717 1 212 1390 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2297562G>A dbSNP ABCA3_000049 0.009434 2 212 1907 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2295844A>C dbSNP ABCA3_000048 0.004717 1 212 905 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2295804G>A dbSNP ABCA3_000047 0.009434 2 212 1818 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2295757C>T dbSNP ABCA3_000046 0.033 7 212 3531 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2295736G>A dbSNP ABCA3_000045 0.004717 1 212 3774 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2295695G>A dbSNP ABCA3_000044 0.004717 1 212 3800 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2292350A>T - ABCA3_000043 0.004854 1 206 424 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2289717G>A - ABCA3_000042 0.004717 1 212 1969 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2289713T>C dbSNP ABCA3_000041 0.16 34 212 2166 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2289637A>G dbSNP ABCA3_000040 0.004717 1 212 2961 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2289628G>A dbSNP ABCA3_000039 0.038 8 212 2956 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2288362C>G dbSNP ABCA3_000038 0.745 158 212 1853 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2288174G>A dbSNP ABCA3_000037 0.009434 2 212 3896 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2288005C>T dbSNP ABCA3_000036 0.009434 2 212 1077 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2287992G>A dbSNP ABCA3_000035 0.442 91 206 790 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2287057T>C dbSNP ABCA3_000034 0.004717 1 212 1481 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2287023C>T dbSNP ABCA3_000033 0.009434 2 212 0 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2285641C>T dbSNP ABCA3_000032 0.004717 1 212 1759 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2285453_2285454insTGCGTCTGCTCCTGGTTGCTAAGCGCGTCGATCCGCATGTCCGCCGGTGTCTCTTCCGCC - ABCA3_000031 - - - - DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2285451_2285452insGGAT - ABCA3_000030 - - - - DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2285447_2285448insCGT - ABCA3_000029 - - - - DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2285410G>A dbSNP ABCA3_000028 0.014 3 212 828 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2284553A>T dbSNP ABCA3_000027 0.705 148 210 756 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2283386C>T dbSNP ABCA3_000026 0.009434 2 212 2350 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2283132A>G dbSNP ABCA3_000025 0.009434 2 212 2435 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2281429A>G dbSNP ABCA3_000024 0.915 194 212 3404 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2281291C>T dbSNP ABCA3_000023 0.004717 1 212 1608 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2281229C>T dbSNP ABCA3_000022 0.009434 2 212 1067 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2280987G>T - ABCA3_000021 0.004717 1 212 1766 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2279260C>T dbSNP ABCA3_000020 0.329 69 210 843 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2279170G>A dbSNP ABCA3_000019 0.028 6 212 1576 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278888T>C dbSNP ABCA3_000018 0.038 8 212 3985 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278840C>A - ABCA3_000017 0.004717 1 212 3116 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278794A>G dbSNP ABCA3_000016 0.004717 1 212 1487 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278789G>A dbSNP ABCA3_000015 0.783 166 212 1312 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278649G>T dbSNP ABCA3_000014 0.428 83 194 479 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278604A>C - ABCA3_000013 0.004717 1 212 842 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278381G>A - ABCA3_000012 0.004717 1 212 3674 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278265T>C dbSNP ABCA3_000011 0.004717 1 212 1915 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278145G>C dbSNP ABCA3_000010 0.009434 2 212 2763 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2278105G>A dbSNP ABCA3_000009 0.004717 1 212 3651 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2277953C>T dbSNP ABCA3_000008 0.004717 1 212 1861 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2277636G>A dbSNP ABCA3_000007 0.004717 1 212 3921 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2277340C>T dbSNP ABCA3_000006 0.00495 1 202 409 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2276966C>T dbSNP ABCA3_000005 0.009804 2 204 502 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2276897G>C dbSNP ABCA3_000004 0.009434 2 212 1877 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2276860C>T dbSNP ABCA3_000003 0.004717 1 212 3363 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2276688C>T dbSNP ABCA3_000002 0.004717 1 212 1569 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
./. Unknown g.2276422A>G - ABCA3_000001 0.004717 1 212 1450 DNA SEQ-NG-I - - 106 reference individuals 106 Admin
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