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: rs174535
rs174535
19 0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 0.700 1.000 1 2019 2019
dbSNP: rs1444782
rs1444782
5 0.851 0.240 10 9016708 intergenic variant G/A snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs1420101
rs1420101
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.710 0.500 2 2010 2019
dbSNP: rs1391371
rs1391371
2 0.925 0.160 6 32636021 intron variant A/C;T snv 0.700 1.000 1 2019 2019
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 2017 2017
dbSNP: rs113795008
rs113795008
1 1.000 0.120 11 192836 intron variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1129844
rs1129844
13 0.752 0.320 17 34285875 missense variant G/A;C;T snv 0.16; 1.2E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs10905284
rs10905284
4 0.882 0.200 10 8073399 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1050152
rs1050152
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.700 1.000 1 2019 2019