Source: ALL
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: rs142433332
rs142433332
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs1553201258
rs1553201258
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0
dbSNP: rs1555487316
rs1555487316
5 0.882 0.240 16 20348247 missense variant A/C snv 0.700 0
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.820 1.000 12 2008 2019
dbSNP: rs1014290
rs1014290
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.810 1.000 6 2010 2019
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 6 2010 2019
dbSNP: rs16890979
rs16890979
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.710 1.000 5 2008 2016
dbSNP: rs2728125
rs2728125
3 0.925 0.120 4 88080741 downstream gene variant A/G snv 8.2E-02 0.800 1.000 5 2010 2019
dbSNP: rs4148155
rs4148155
5 0.882 0.200 4 88133515 intron variant A/G snv 8.7E-02 0.800 1.000 5 2010 2019
dbSNP: rs7442295
rs7442295
5 0.925 0.120 4 9964756 intron variant A/G snv 0.28 0.700 1.000 5 2008 2013
dbSNP: rs10011796
rs10011796
4 0.882 0.160 4 88169725 intron variant T/C;G snv 0.800 1.000 4 2010 2015
dbSNP: rs2725211
rs2725211
3 0.925 0.120 4 88049223 intron variant C/T snv 7.8E-02 0.800 1.000 4 2010 2019
dbSNP: rs2728104
rs2728104
3 0.925 0.120 4 88051854 intron variant T/C snv 8.7E-02 0.800 1.000 4 2010 2017
dbSNP: rs3114020
rs3114020
5 0.882 0.200 4 88162514 intron variant T/C snv 0.40 0.800 1.000 4 2010 2017
dbSNP: rs3775948
rs3775948
4 0.882 0.160 4 9993558 intron variant G/A;C snv 0.800 1.000 4 2010 2016
dbSNP: rs6855911
rs6855911
7 0.851 0.200 4 9934286 intron variant A/G snv 0.33 0.700 1.000 4 2007 2013
dbSNP: rs734553
rs734553
7 0.851 0.240 4 9921380 intron variant G/A;T snv 0.800 1.000 4 2010 2013
dbSNP: rs737267
rs737267
7 0.851 0.240 4 9933120 intron variant G/A;T snv 0.700 1.000 4 2008 2013
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 4 2010 2017
dbSNP: rs10001106
rs10001106
3 0.925 0.120 4 10125817 intergenic variant T/A;C snv 0.700 1.000 3 2010 2013
dbSNP: rs10003001
rs10003001
3 0.925 0.120 4 9982851 intron variant C/T snv 0.21 0.700 1.000 3 2010 2013
dbSNP: rs10006397
rs10006397
3 0.925 0.120 4 10034516 non coding transcript exon variant C/A snv 0.78 0.700 1.000 3 2010 2013
dbSNP: rs10009618
rs10009618
3 0.925 0.120 4 88172856 intron variant C/T snv 0.58 0.700 1.000 3 2010 2013
dbSNP: rs10022499
rs10022499
3 0.925 0.120 4 10004913 intron variant C/A snv 0.72 0.700 1.000 3 2010 2013
dbSNP: rs10023068
rs10023068
3 0.925 0.120 4 10003208 intron variant A/G snv 0.72 0.700 1.000 3 2010 2013