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: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.800 1.000 14 2008 2019
dbSNP: rs4148155
rs4148155
5 0.882 0.200 4 88133515 intron variant A/G snv 8.7E-02 0.800 1.000 4 2009 2019
dbSNP: rs1481012
rs1481012
6 0.882 0.200 4 88117930 intron variant A/G snv 8.9E-02 0.800 1.000 3 2009 2019
dbSNP: rs2054576
rs2054576
4 0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02 0.800 1.000 3 2009 2019
dbSNP: rs3114018
rs3114018
4 0.882 0.160 4 88143429 intron variant A/C snv 0.48 0.800 1.000 3 2009 2018
dbSNP: rs10011796
rs10011796
4 0.882 0.160 4 88169725 intron variant T/C;G snv 0.800 1.000 2 2009 2015
dbSNP: rs2199936
rs2199936
5 0.882 0.160 4 88124179 intron variant A/G;T snv 0.88 0.700 1.000 4 2010 2019
dbSNP: rs10009618
rs10009618
3 0.925 0.120 4 88172856 intron variant C/T snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs12505410
rs12505410
3 0.925 0.120 4 88109689 intron variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs1481017
rs1481017
4 0.882 0.160 4 88176325 intron variant C/T snv 0.59 0.700 1.000 1 2009 2009
dbSNP: rs17731799
rs17731799
3 0.925 0.120 4 88147303 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs199897813
rs199897813
2 1.000 0.040 4 88094576 splice donor variant C/A;T snv 5.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs2231156
rs2231156
3 0.925 0.120 4 88099275 intron variant C/A snv 0.10 7.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs2622605
rs2622605
3 0.925 0.120 4 88158234 intron variant T/A;C snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs2622608
rs2622608
3 0.925 0.120 4 88165592 intron variant A/G;T snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs2622621
rs2622621
6 0.851 0.240 4 88109768 intron variant C/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs2622624
rs2622624
3 0.925 0.120 4 88148254 intron variant T/C snv 0.41 0.700 1.000 1 2009 2009
dbSNP: rs2622626
rs2622626
3 0.925 0.120 4 88145563 intron variant C/A snv 0.47 0.700 1.000 1 2009 2009
dbSNP: rs2622629
rs2622629
4 0.882 0.160 4 88172912 intron variant T/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs2725271
rs2725271
3 0.925 0.120 4 88170035 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3114020
rs3114020
5 0.882 0.200 4 88162514 intron variant T/C snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs4148152
rs4148152
2 1.000 0.040 4 88139757 intron variant T/C snv 0.11 7.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs4148157
rs4148157
3 0.925 0.120 4 88099782 intron variant G/A snv 7.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs4693924
rs4693924
3 0.925 0.120 4 88102072 intron variant G/A snv 8.0E-02 0.700 1.000 1 2009 2009
dbSNP: rs55930652
rs55930652
1 4 88174538 intron variant G/A snv 0.21 0.700 1.000 1 2018 2018