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: rs1555206402
rs1555206402
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1555640521
rs1555640521
15 0.790 0.320 18 6942110 frameshift variant A/- delins 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: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2013 2018
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2006 2006
dbSNP: rs150283105
rs150283105
2 3 128909410 missense variant C/T snv 7.2E-05 1.3E-04 0.010 1.000 1 2017 2017
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: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2018 2018
dbSNP: rs349358
rs349358
3 8 72539240 intron variant C/T snv 0.88 0.010 1.000 1 2020 2020
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2018 2018
dbSNP: rs6806362
rs6806362
1 3 103172459 intergenic variant G/T snv 1.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs6807670
rs6807670
1 3 184060510 3 prime UTR variant G/A snv 0.61 0.010 1.000 1 2010 2010
dbSNP: rs763004980
rs763004980
2 3 128906139 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2017 2017