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: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2014 2019
dbSNP: rs10041590
rs10041590
2 5 24064827 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1015164
rs1015164
8 0.925 3 46410189 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs10892961
rs10892961
2 11 123093392 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10929301
rs10929301
4 2 233755003 splice region variant C/G;T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs11087114
rs11087114
1 20 14931037 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11228672
rs11228672
2 11 56597931 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs113162402
rs113162402
1 17 58522103 splice acceptor variant T/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs11673726
rs11673726
4 2 233755414 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1461494
rs1461494
2 11 123055777 downstream gene variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs1552896
rs1552896
1 9 14841389 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs16893073
rs16893073
2 5 24072508 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs17062789
rs17062789
2 8 1203198 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs2243191
rs2243191
2 1.000 0.040 1 206842612 missense variant T/C;G snv 0.71; 5.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs2586052
rs2586052
1 17 57885718 5 prime UTR variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2853699
rs2853699
1 3 39332411 missense variant C/A;G;T snv 4.0E-06; 0.21; 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs2866233
rs2866233
1 4 100649444 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2907092
rs2907092
1 5 11047569 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs34003842
rs34003842
2 8 1206131 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2014 2014