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: rs1057028
rs1057028
1 1.000 0.040 1 159032599 missense variant T/A snv 0.78 0.70 0.010 1.000 1 2017 2017
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2019 2019
dbSNP: rs11747270
rs11747270
7 0.790 0.240 5 150879305 intron variant A/G snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs133049
rs133049
4 0.882 0.080 22 40635351 intron variant A/- delins 0.82 0.010 < 0.001 1 2018 2018
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2020 2020
dbSNP: rs1339693179
rs1339693179
3 0.882 0.120 2 232379613 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2011 2011
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs3217992
rs3217992
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 < 0.001 1 2018 2018
dbSNP: rs762915678
rs762915678
3 0.882 0.120 1 21563153 missense variant C/T snv 4.0E-06 2.8E-05 0.010 1.000 1 2005 2005