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: rs117492019
rs117492019
1 19 58170494 intron variant G/T snv 0.14 0.700 1.000 3 2015 2018
dbSNP: rs217386
rs217386
1 7 44561096 downstream gene variant G/A snv 0.41 0.700 1.000 2 2018 2019
dbSNP: rs2294261
rs2294261
1 6 16108932 downstream gene variant A/C snv 0.65 0.700 1.000 2 2017 2019
dbSNP: rs2587534
rs2587534
1 1 234713592 intron variant G/A snv 0.65 0.700 1.000 2 2017 2019
dbSNP: rs360801
rs360801
1 2 62728252 intron variant A/C;G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs6065311
rs6065311
1 20 41095698 intron variant T/C snv 0.59 0.700 1.000 2 2017 2019
dbSNP: rs10104003
rs10104003
RP1
1 8 54509880 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs10275712
rs10275712
1 7 1043282 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1047743
rs1047743
UNK
1 17 75794012 3 prime UTR variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10490120
rs10490120
1 2 48916690 intron variant A/G snv 9.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs10513551
rs10513551
1 3 160368267 intron variant G/T snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs10764055
rs10764055
1 10 35777511 upstream gene variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11218721
rs11218721
1 11 122634009 regulatory region variant C/A snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs112595563
rs112595563
1 16 68020885 intron variant A/G snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs112959129
rs112959129
1 7 73733661 upstream gene variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs113932726
rs113932726
1 11 116779922 intron variant C/T snv 9.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs11406672
rs11406672
1 3 122507441 intron variant AA/-;A;AAA;AAAA;AAAAA;AAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs114846969
rs114846969
1 19 11080521 downstream gene variant G/A snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs116376114
rs116376114
1 21 41884157 upstream gene variant T/C snv 8.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs11638450
rs11638450
1 15 80898191 intron variant C/T snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs11802413
rs11802413
1 1 25434429 intron variant C/T snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs118147862
rs118147862
1 19 44816374 intron variant G/A snv 2.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs12027110
rs12027110
1 1 25449191 intron variant A/T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs12136600
rs12136600
1 1 55055522 intron variant C/T snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs12151108
rs12151108
1 19 11086585 upstream gene variant G/A snv 0.12 0.700 1.000 1 2019 2019