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: rs2167364
rs2167364
1 1.000 0.120 7 50498129 intron variant T/C snv 0.30 0.800 1.000 2 2012 2013
dbSNP: rs540476365
rs540476365
1 1.000 0.120 3 47121125 missense variant T/C snv 0.700 1.000 2 2014 2014
dbSNP: rs780963440
rs780963440
1 1.000 0.120 3 47123960 missense variant G/A;C snv 5.0E-05; 1.3E-05 0.700 1.000 2 2014 2014
dbSNP: rs10261922
rs10261922
1 1.000 0.120 7 50414314 intergenic variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1037351
rs1037351
1 1.000 0.120 7 50497706 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10899736
rs10899736
1 1.000 0.120 7 50479227 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10949482
rs10949482
1 1.000 0.120 6 18121083 3 prime UTR variant C/T snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs11013046
rs11013046
1 1.000 0.120 10 22551654 intron variant C/T snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs1110701
rs1110701
1 1.000 0.120 7 50410929 intergenic variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs112141546
rs112141546
1 1.000 0.120 16 77367618 missense variant C/A;G;T snv 4.0E-06; 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs11575387
rs11575387
1 1.000 0.120 7 50499737 intron variant T/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs11575575
rs11575575
1 1.000 0.120 7 50456510 intron variant C/A snv 7.5E-02 0.700 1.000 1 2013 2013
dbSNP: rs12719039
rs12719039
1 1.000 0.120 7 50351251 intron variant T/C snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs12887958
rs12887958
1 1.000 0.120 14 23113360 downstream gene variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs141708090
rs141708090
1 1.000 0.120 3 14761602 missense variant G/T snv 1.9E-03 5.2E-04 0.700 1.000 1 2016 2016
dbSNP: rs1569175
rs1569175
1 1.000 0.120 2 200157231 intergenic variant T/C snv 0.88 0.700 1.000 1 2009 2009
dbSNP: rs17079534
rs17079534
1 1.000 0.120 3 39805581 upstream gene variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs17133853
rs17133853
1 1.000 0.120 7 50501717 intron variant A/G snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs17152020
rs17152020
1 1.000 0.120 7 50482161 intron variant T/A snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs17505102
rs17505102
1 1.000 0.120 3 189683987 intron variant G/C snv 9.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs1945213
rs1945213
1 1.000 0.120 11 56408195 upstream gene variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs200495769
rs200495769
1 1.000 0.120 4 94573377 missense variant C/T snv 1.0E-04 1.3E-04 0.700 1.000 1 2016 2016
dbSNP: rs2069426
rs2069426
1 1.000 0.120 9 22006274 intron variant G/A;C;T snv 4.4E-06; 4.4E-06; 7.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs207954
rs207954
1 1.000 0.120 15 92114143 intron variant T/A;C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs2390536
rs2390536
SP4
1 1.000 0.120 7 21445779 intron variant G/A snv 0.26 0.700 1.000 1 2018 2018