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: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2014 2014
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs1966678
rs1966678
2 4 29322410 intergenic variant T/G snv 0.60 0.700 1.000 1 2015 2015
dbSNP: rs2395029
rs2395029
12 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs4761669
rs4761669
1 12 94793846 intergenic variant T/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs10041590
rs10041590
2 5 24064827 intron variant T/C;G snv 0.700 1.000 1 2015 2015
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: rs73670671
rs73670671
2 8 1203645 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10179091
rs10179091
4 2 233749337 intron variant T/C snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs11888459
rs11888459
4 2 233747994 non coding transcript exon variant T/C snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs1836778
rs1836778
2 4 29332870 intergenic variant T/C snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs2227513
rs2227513
3 1.000 0.080 12 68253559 intron variant T/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs2255301
rs2255301
CD4
3 0.925 0.160 12 6800276 intron variant T/C snv 0.59 0.61 0.010 1.000 1 2011 2011
dbSNP: rs2280828
rs2280828
1 8 117750197 intergenic variant T/C snv 4.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs34352510
rs34352510
2 2 233741916 non coding transcript exon variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs6139258
rs6139258
2 1.000 0.080 20 3977969 intron variant T/C snv 3.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs6448638
rs6448638
2 4 29333941 intergenic variant T/C snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs6714634
rs6714634
4 2 233756119 non coding transcript exon variant T/C snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs7039098
rs7039098
2 9 135121473 downstream gene variant T/C snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs72749479
rs72749479
2 9 80667356 intergenic variant T/C snv 8.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs72749483
rs72749483
2 9 80670259 intergenic variant T/C snv 8.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs75158213
rs75158213
1 3 48345739 intergenic variant T/C snv 1.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs9264942
rs9264942
15 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs2907092
rs2907092
1 5 11047569 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs4148324
rs4148324
4 2 233764076 intron variant T/A;G snv 0.36 0.700 1.000 1 2015 2015