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: rs762834512
rs762834512
1 1.000 0.160 22 20996740 missense variant G/A snv 4.0E-06 0.800 1.000 4 2010 2019
dbSNP: rs1275511136
rs1275511136
1 1.000 0.160 22 20997287 missense variant T/C;G snv 0.700 1.000 3 2018 2019
dbSNP: rs1287917092
rs1287917092
1 1.000 0.160 22 20989645 missense variant T/C snv 8.0E-06 0.700 1.000 3 2018 2019
dbSNP: rs1327579827
rs1327579827
1 1.000 0.160 22 20995995 missense variant C/A;G snv 0.700 1.000 3 2018 2019
dbSNP: rs1034395178
rs1034395178
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1459786357
rs1459786357
1 1.000 0.160 22 20982334 5 prime UTR variant T/A;C snv 8.0E-06; 1.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs1249726034
rs1249726034
1 1.000 0.160 22 20996679 non coding transcript exon variant C/A;G snv 4.0E-06; 4.0E-06; 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1374240053
rs1374240053
1 1.000 0.160 22 20994629 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs150419186
rs150419186
2 1.000 0.160 22 20989659 stop gained C/A;G;T snv 4.0E-06; 1.2E-05; 7.2E-05 0.700 0
dbSNP: rs1569154492
rs1569154492
1 1.000 0.160 22 20987544 missense variant C/G snv 0.700 0
dbSNP: rs370638947
rs370638947
1 1.000 0.160 22 20995983 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs757502214
rs757502214
1 1.000 0.160 22 20988117 missense variant C/T snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs761685529
rs761685529
1 1.000 0.160 22 20995490 splice region variant C/T snv 4.1E-05 8.4E-05 0.700 0
dbSNP: rs770933647
rs770933647
1 1.000 0.160 22 20993712 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs777243508
rs777243508
2 0.925 0.160 22 20993977 stop gained G/A snv 1.4E-04 1.8E-04 0.700 0