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: rs12504244
rs12504244 		2 0.925 0.040 4 54619021 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10042486
rs10042486 		4 0.882 0.040 5 63965502 intron variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs10070190
rs10070190 		2 0.925 0.040 5 26866262 intergenic variant G/A snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs1800042
rs1800042
HTR1A
2 1.000 0.040 5 63960902 missense variant C/A;T snv 8.0E-06; 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs1838733
rs1838733
PDE4D
1 1.000 0.040 5 59237566 intron variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.020 1.000 2 2012 2014
dbSNP: rs1417182
rs1417182
GRIK2
1 1.000 0.040 6 101885466 intron variant G/A snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs1556995
rs1556995
GRIK2
1 1.000 0.040 6 101869470 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1799971
rs1799971
OPRM1
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2004 2004
dbSNP: rs1799972
rs1799972
OPRM1
6 0.827 0.080 6 154039561 missense variant C/A;G;T snv 4.1E-06; 1.7E-02 0.010 1.000 1 2004 2004
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 2014 2014
dbSNP: rs2000292
rs2000292
LOC105377864
1 1.000 0.040 6 77457228 downstream gene variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs2071592
rs2071592
ATP6V1G2 ; NFKBIL1 ; ATP6V1G2-DDX39B
3 0.882 0.200 6 31547563 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs2857766
rs2857766
MOG
4 0.882 0.120 6 29666226 missense variant G/C snv 0.22 0.19 0.010 1.000 1 2010 2010
dbSNP: rs3747767
rs3747767
LOC112267857
2 1.000 0.040 6 79547564 intergenic variant C/A snv 8.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs6296
rs6296
HTR1B ; LOC105377864
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2002 2002
dbSNP: rs75063949
rs75063949
CARMIL1
2 0.925 0.040 6 25590813 intron variant C/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs9357271
rs9357271
BTBD9
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs12536521
rs12536521 		1 1.000 0.040 7 89349373 intergenic variant T/A snv 4.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs324981
rs324981
NPSR1 ; NPSR1-AS1
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2013 2013
dbSNP: rs11783752
rs11783752 		2 0.925 0.040 8 20192013 intergenic variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs301430
rs301430
SLC1A1 ; SPATA6L
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.060 1.000 6 2007 2019
dbSNP: rs301443
rs301443
SPATA6L
1 1.000 0.040 9 4594919 intron variant C/G snv 0.72 0.050 0.800 5 2010 2019
dbSNP: rs301434
rs301434
SLC1A1 ; SPATA6L
2 0.925 0.040 9 4582082 intron variant C/G;T snv 0.040 1.000 4 2006 2019
dbSNP: rs2228622
rs2228622
SLC1A1 ; SPATA6L
1 1.000 0.040 9 4564432 synonymous variant G/A snv 0.39 0.35 0.030 1.000 3 2007 2019