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: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2020 2020
dbSNP: rs121918782
rs121918782
SCN1A ; SCN1A-AS1
3 0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs763256222
rs763256222
SCN9A ; SCN1A-AS1
2 0.925 0.080 2 166288466 missense variant G/A snv 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs770771659
rs770771659
SCN9A ; SCN1A-AS1
2 0.925 0.080 2 166286614 missense variant C/T snv 9.4E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2018 2018
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2018 2018
dbSNP: rs13306038
rs13306038
PTGS2
1 1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs201931599
rs201931599
PTGS2
1 1.000 0.080 1 186671994 3 prime UTR variant T/A snv 1.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4648306
rs4648306
PTGS2
1 1.000 0.080 1 186671572 downstream gene variant C/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs4648308
rs4648308
PTGS2
5 0.851 0.160 1 186671485 downstream gene variant C/T snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs689465
rs689465
PTGS2 ; PACERR
7 0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs689470
rs689470
PTGS2
9 0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs210987
rs210987
GABRG2
2 0.925 0.080 5 162108749 intron variant C/T snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs146572471
rs146572471
SLC30A3
1 1.000 0.080 2 27256512 missense variant G/A;C snv 5.8E-04; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962
CACNA1A
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs786200963
rs786200963
CACNA1A
6 0.827 0.200 19 13371683 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs11105468
rs11105468
LOC105369890
1 1.000 0.080 12 89935056 intron variant T/A snv 0.26 0.700 1.000 1 2014 2014