Source: ALL
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: rs10763170
rs10763170
PCDH15
1 1.000 0.120 10 55017264 intron variant T/C snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs17083838
rs17083838
CDK8
1 1.000 0.120 13 26336975 intron variant G/A;T snv 5.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs2359536
rs2359536
LOC105376442
1 1.000 0.120 10 20610679 intergenic variant T/C snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs12778366
rs12778366
SIRT1
13 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 0.020 1.000 2 2017 2019
dbSNP: rs104894190
rs104894190
AIP
4 0.882 0.120 11 67490911 missense variant G/A snv 1.7E-03 1.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs267606573
rs267606573
AIP ; MIR6752
1 1.000 0.120 11 67490391 stop gained A/G;T snv 3.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs2959656
rs2959656
MEN1 ; MAP4K2
5 0.851 0.160 11 64804546 missense variant T/C snv 0.94 0.90 0.010 1.000 1 2016 2016
dbSNP: rs3740051
rs3740051
SIRT1
2 0.925 0.200 10 67884201 upstream gene variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4746720
rs4746720
SIRT1
7 0.790 0.320 10 67917073 3 prime UTR variant T/C snv 2.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs7131056
rs7131056
DRD2
6 0.827 0.200 11 113459052 intron variant A/C snv 0.51 0.010 1.000 1 2016 2016
dbSNP: rs744166
rs744166
STAT3
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.010 1.000 1 2017 2017