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: rs10510050
rs10510050
1 10 118867050 intron variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs11598702
rs11598702
1 10 103138228 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs11789898
rs11789898
3 9 134060541 intron variant G/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs160441
rs160441
2 1.000 0.040 8 89644760 intron variant T/C snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs17824620
rs17824620
2 12 112663189 intron variant C/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1800812
rs1800812
2 1.000 0.080 4 54228462 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1800890
rs1800890
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs2071346
rs2071346
3 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs218916
rs218916
2 1.000 0.040 8 89688709 intron variant C/T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs2297630
rs2297630
6 0.827 0.160 10 44376100 intron variant G/A;T snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs3786136
rs3786136
1 17 1869979 intron variant G/A snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs4694362
rs4694362
DCK
1 4 71028147 intron variant C/T snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs4969170
rs4969170
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs5030437
rs5030437
1 11 36503205 intron variant A/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs5030470
rs5030470
1 11 36493896 intron variant A/G snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs6667202
rs6667202
4 0.882 0.120 1 206783747 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs760370
rs760370
3 0.925 0.120 6 44233216 intron variant A/G snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs7694379
rs7694379
3 1.000 4 87265357 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs7729269
rs7729269
MCC
3 0.925 0.040 5 113384697 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs9574547
rs9574547
1 13 80057282 intron variant C/A snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs104894419
rs104894419
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
dbSNP: rs121909752
rs121909752
4 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 0.700 1.000 1 2019 2019
dbSNP: rs1569008655
rs1569008655
1 21 34799310 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs138924661
rs138924661
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs1569061768
rs1569061768
2 1.000 0.120 21 34859477 stop gained G/A snv 0.700 0