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: rs730882229
rs730882229
PTPN23
3 0.882 0.040 3 47411889 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs730882242
rs730882242
DIAPH1
7 0.807 0.280 5 141573518 stop gained G/A snv 0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
4 0.851 0.160 12 51790401 stop gained G/A;T snv 0.700 0
dbSNP: rs80359826
rs80359826
SLC2A1
7 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs886039798
rs886039798
BBS1 ; ZDHHC24
4 0.925 0.120 11 66529902 frameshift variant -/T delins 0.700 0
dbSNP: rs104894358
rs104894358
KCNA1
3 0.882 0.120 12 4912627 stop gained C/G;T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2012 2012
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 < 0.001 1 2012 2012
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2012 2012
dbSNP: rs2235076
rs2235076
GRIK2
2 0.925 0.080 6 102068385 missense variant G/A snv 1.8E-02 1.7E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs2304016
rs2304016
SCN2A
2 0.925 0.040 2 165311993 intron variant A/G snv 1.2E-02 4.8E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs2307441
rs2307441
POLG
6 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2499697
rs2499697
GRM4
2 0.925 0.040 6 34077141 intron variant A/C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs28933383
rs28933383
KCNA1
8 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 < 0.001 1 2010 2010
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 < 0.001 1 2015 2015
dbSNP: rs3087374
rs3087374
POLG ; FANCI
3 0.882 0.080 15 89316763 missense variant C/A snv 6.1E-02 6.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 < 0.001 1 2011 2011
dbSNP: rs587777365
rs587777365
GABRG2
2 0.925 0.080 5 162093967 missense variant C/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs61822012
rs61822012
KCNJ9 ; KCNJ10
1 1.000 0.040 1 160071368 intron variant A/G snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs6949448
rs6949448
ABCB1
1 1.000 0.040 7 87512498 intron variant T/C snv 0.63 0.010 < 0.001 1 2011 2011
dbSNP: rs9314349
rs9314349
CLU
1 1.000 0.040 8 27616685 upstream gene variant A/G snv 0.30 0.010 < 0.001 1 2017 2017
dbSNP: rs9331949
rs9331949
CLU ; EPHX2
2 0.925 0.080 8 27597169 3 prime UTR variant T/C snv 6.2E-02 4.7E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs211037
rs211037
GABRG2
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.060 0.667 6 2010 2018
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.030 0.667 3 2009 2011