Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893689
rs104893689
10 0.790 0.200 3 122261589 missense variant G/A;C snv 0.700 1.000 4 1976 2004
dbSNP: rs104893851
rs104893851
6 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 0
dbSNP: rs1057518886
rs1057518886
5 11 119090043 frameshift variant C/- delins 0.700 0
dbSNP: rs116928232
rs116928232
9 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.700 0
dbSNP: rs1553454436
rs1553454436
3 1.000 0.080 2 149582256 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555206402
rs1555206402
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1557607997
rs1557607997
4 0.925 0.160 1 45508296 frameshift variant -/C delins 0.700 0
dbSNP: rs1569548274
rs1569548274
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs780533096
rs780533096
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs886037774
rs886037774
LPL
7 0.882 0.120 8 19955993 missense variant T/C snv 0.700 0
dbSNP: rs886037775
rs886037775
LPL
7 0.882 0.120 8 19960948 missense variant A/T snv 0.700 0
dbSNP: rs1062613
rs1062613
7 0.807 0.080 11 113975284 5 prime UTR variant T/C snv 0.79 0.71 0.010 1.000 1 2013 2013
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1799801
rs1799801
9 0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25 0.010 1.000 1 2017 2017
dbSNP: rs267607165
rs267607165
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2017 2017
dbSNP: rs3743930
rs3743930
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
dbSNP: rs3758987
rs3758987
4 0.925 0.080 11 113904553 upstream gene variant T/C snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs3782025
rs3782025
4 0.882 0.080 11 113936885 intron variant G/A snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs639174
rs639174
1 5 31433540 intron variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs6766410
rs6766410
2 1.000 0.040 3 184056974 missense variant C/A;T snv 0.45; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs77931234
rs77931234
3 0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03 0.010 1.000 1 2010 2010