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: rs121434265
rs121434265
3 0.925 0.080 1 193125142 stop gained C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs759506294
rs759506294
1 1.000 0.080 2 25161526 missense variant C/A;T snv 5.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs768299768
rs768299768
2 0.925 0.200 2 25161505 missense variant C/A;T snv 9.2E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913228
rs121913228
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.030 1.000 3 2007 2012
dbSNP: rs121913400
rs121913400
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1057518933
rs1057518933
5 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0
dbSNP: rs374453691
rs374453691
2 0.925 0.080 9 76707245 missense variant C/T snv 2.0E-04 1.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs2959656
rs2959656
5 0.851 0.160 11 64804546 missense variant T/C snv 0.94 0.90 0.010 1.000 1 1998 1998
dbSNP: rs1057518903
rs1057518903
6 0.882 0.160 11 64807890 splice region variant C/- delins 0.700 0
dbSNP: rs1555166368
rs1555166368
6 0.851 0.120 11 64809738 frameshift variant GA/- del 0.700 0
dbSNP: rs2066827
rs2066827
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.010 1.000 1 2014 2014
dbSNP: rs786202497
rs786202497
4 0.882 0.200 22 28719423 frameshift variant C/- del 0.700 0