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: rs1555908409
rs1555908409
7 0.851 0.160 22 37232842 missense variant C/T snv 0.700 0
dbSNP: rs3218716
rs3218716
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs74315329
rs74315329
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
dbSNP: rs104894419
rs104894419
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2001 2001
dbSNP: rs1234314
rs1234314
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11706052
rs11706052
3 0.882 0.080 3 49026677 intron variant A/G snv 8.3E-02 7.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs2074087
rs2074087
3 0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83 0.010 1.000 1 2015 2015
dbSNP: rs2278294
rs2278294
3 0.882 0.080 7 128400645 non coding transcript exon variant C/T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2015 2015
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1461664423
rs1461664423
2 1.000 0.080 9 127658446 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs238406
rs238406
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2019 2019
dbSNP: rs2740574
rs2740574
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs777018011
rs777018011
1 1.000 0.080 19 50417229 missense variant C/T snv 8.5E-06 0.010 1.000 1 2020 2020