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: rs1157200929
rs1157200929
2 0.925 0.120 19 22180315 stop gained T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1162844242
rs1162844242
2 0.925 0.120 3 38138711 missense variant G/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121912654
rs121912654
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1353428252
rs1353428252
5 0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs16917496
rs16917496
21 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs35631544
rs35631544
2 0.925 0.120 16 24191130 missense variant C/A;G snv 6.3E-04 1.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs572432356
rs572432356
2 0.925 0.120 5 75596681 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs752626029
rs752626029
2 0.925 0.120 2 25239208 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019