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: rs76850691
rs76850691
1 10 99397681 stop gained G/A;C snv 4.0E-06; 5.2E-03 0.700 1.000 2 2013 2019
dbSNP: rs10001545
rs10001545
3 4 87254878 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10165093
rs10165093
1 2 232639279 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs10198552
rs10198552
2 2 134842306 intron variant T/C snv 6.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs10272006
rs10272006
SP4
3 0.925 0.080 7 21480514 intron variant G/A snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs10509735
rs10509735
1 10 99372525 intron variant A/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs10827785
rs10827785
1 10 17933413 intergenic variant T/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs11066280
rs11066280
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs11067592
rs11067592
2 12 109631385 intergenic variant G/T snv 1.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs114059064
rs114059064
1 6 33108491 upstream gene variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs115695709
rs115695709
1 6 32223562 intron variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs117983281
rs117983281
1 9 2809077 intron variant C/T snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs118107800
rs118107800
1 10 110871498 non coding transcript exon variant T/C snv 2.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs11820744
rs11820744
2 1.000 0.040 11 3147308 intron variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs11878604
rs11878604
5 19 40827379 intron variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs12231737
rs12231737
5 0.925 0.120 12 112136812 intron variant C/T snv 5.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs12580745
rs12580745
1 12 129167622 intron variant T/C snv 3.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs12803802
rs12803802
1 11 107800953 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs13077101
rs13077101
4 3 120706484 intron variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs137866734
rs137866734
1 1 94074274 intron variant C/T snv 6.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs138424361
rs138424361
1 18 61567782 downstream gene variant G/A snv 9.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs139271658
rs139271658
2 1.000 0.040 9 9797383 intron variant A/G snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs139761834
rs139761834
3 7 80545045 intron variant T/C snv 2.8E-04 0.700 1.000 1 2018 2018
dbSNP: rs144430312
rs144430312
1 10 17693720 intron variant T/C snv 3.4E-04 0.700 1.000 1 2018 2018
dbSNP: rs147627531
rs147627531
1 4 20989760 intron variant C/A;T snv 0.700 1.000 1 2019 2019