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: rs2814778
rs2814778
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.700 1.000 2 2017 2019
dbSNP: rs4970966
rs4970966
2 1 150611627 intron variant G/T snv 0.16 0.700 1.000 2 2016 2018
dbSNP: rs10489481
rs10489481
2 1 185422035 regulatory region variant G/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs115340020
rs115340020
2 1 92300881 intron variant G/A snv 1.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs11580646
rs11580646
2 1 117619797 intron variant C/G snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.700 1.000 1 2016 2016
dbSNP: rs12753280
rs12753280
2 1 92550671 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs141094656
rs141094656
2 1 92287779 intron variant T/C snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs17608459
rs17608459
2 1 109892706 upstream gene variant G/A snv 7.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs200895692
rs200895692
2 1 42956286 intron variant GCCTGTAATCCCAG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs2615061
rs2615061
3 1 225708104 intron variant G/A snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs3123543
rs3123543
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs333947
rs333947
7 1 109928142 intron variant G/A snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs34599082
rs34599082
8 1 159205704 missense variant C/T snv 1.1E-02 9.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs35883536
rs35883536
2 1 100640978 non coding transcript exon variant G/A snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs514406
rs514406
2 1 52864786 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs59072704
rs59072704
2 1 244324625 intergenic variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs6429432
rs6429432
2 1 235943941 upstream gene variant A/C snv 0.93 0.700 1.000 1 2016 2016
dbSNP: rs67397717
rs67397717
2 1 26327482 intron variant AAAAAAA/-;AAAA;AAAAA;AAAAAA;AAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs708727
rs708727
2 1 205798757 synonymous variant G/A snv 0.30 0.29 0.700 1.000 1 2016 2016
dbSNP: rs72675573
rs72675573
2 1 56171209 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs7516138
rs7516138
2 1 9651584 upstream gene variant A/G snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs1449263
rs1449263
5 1.000 0.080 2 181454574 upstream gene variant C/T snv 0.56 0.700 1.000 3 2011 2018
dbSNP: rs2124440
rs2124440
2 2 181463487 intron variant G/A snv 0.55 0.700 1.000 3 2013 2017
dbSNP: rs10168795
rs10168795
2 2 224888625 intron variant A/G snv 0.24 0.700 1.000 1 2016 2016