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: rs4822489
rs4822489
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
2 0.925 0.200 22 24437792 intron variant T/G snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs6026584
rs6026584
GNAS
3 0.925 0.040 20 58894018 intron variant T/C snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs6684209
rs6684209
CASQ2
2 1.000 0.040 1 115707991 intron variant C/T snv 0.17 0.010 1.000 1 2014 2014
dbSNP: rs6787362
rs6787362
FRMD4B
2 0.925 0.040 3 69178228 intron variant A/G snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs740363
rs740363
HSPA12A
5 0.851 0.080 10 116816095 intron variant G/A snv 0.40 0.010 1.000 1 2007 2007
dbSNP: rs9303504
rs9303504
PRKCA
2 0.925 0.040 17 66319248 intron variant G/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs958546
rs958546
LRRC63
3 0.882 0.040 13 46259582 intron variant G/C snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs9838915
rs9838915
KLF15
4 0.882 0.120 3 126347377 intron variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs10189761
rs10189761 		4 0.882 0.120 2 646364 intergenic variant T/A snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs28714259
rs28714259 		5 0.882 0.120 15 23463380 intergenic variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs9351814
rs9351814 		4 0.882 0.040 6 71484004 intergenic variant A/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs9885413
rs9885413 		2 0.925 0.040 5 110840429 intergenic variant G/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs73956431
rs73956431
B4GALT6
6 0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.040 0.750 4 2009 2018
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs1815739
rs1815739
ACTN3
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs767312316
rs767312316
UTS2R
1 1.000 0.040 17 82375046 stop gained C/A;G;T snv 6.6E-05; 1.7E-05; 1.7E-05 0.010 1.000 1 2015 2015
dbSNP: rs766265889
rs766265889
TTN ; TTN-AS1
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.100 0.929 14 2003 2019
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.070 0.857 7 2010 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 1.000 6 2010 2018
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.060 1.000 6 2000 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.060 1.000 6 1999 2014