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: rs2276314
rs2276314
1 1.000 0.080 18 35977503 missense variant A/G;T snv 0.23; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1805128
rs1805128
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.020 1.000 2 2012 2013
dbSNP: rs1805123
rs1805123
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs1805127
rs1805127
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2016 2016
dbSNP: rs189014161
rs189014161
3 0.882 0.120 7 150950336 stop gained G/A;C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs199472758
rs199472758
2 0.925 0.120 11 2583526 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs199472759
rs199472759
2 0.925 0.120 11 2583529 missense variant T/A;C snv 0.010 < 0.001 1 2013 2013
dbSNP: rs199472823
rs199472823
5 0.851 0.240 11 2571328 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs199472922
rs199472922
3 0.882 0.120 7 150951708 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs199473108
rs199473108
2 0.925 0.120 3 38606071 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs199473339
rs199473339
2 0.925 0.120 3 38605953 stop gained C/A;T snv 6.3E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs767910122
rs767910122
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs79299226
rs79299226
4 0.851 0.120 3 38550898 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs794728448
rs794728448
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2012 2012