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: rs1143623
rs1143623
IL1B
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs179991
rs179991
ATXN1
1 6 16325331 intron variant C/T snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs2682826
rs2682826
NOS1
11 0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs3766871
rs3766871
RYR2
9 0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2019 2019
dbSNP: rs5326
rs5326
DRD1
6 0.851 0.160 5 175443193 5 prime UTR variant C/T snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2016 2016
dbSNP: rs628031
rs628031
SLC22A1
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs702764
rs702764
OPRK1
4 0.925 0.120 8 53229597 synonymous variant T/C;G snv 0.17; 8.0E-06 0.010 1.000 1 2018 2018