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: rs4307059
rs4307059 		5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.030 1.000 3 2010 2012
dbSNP: rs11787216
rs11787216 		2 1.000 0.040 8 141605122 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs12826786
rs12826786 		26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 1.000 1 2020 2020
dbSNP: rs13000344
rs13000344 		2 0.925 0.040 2 63062599 downstream gene variant T/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs13294439
rs13294439 		2 1.000 0.040 9 23358877 intron variant A/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs194085
rs194085 		1 1.000 0.040 5 9591303 intergenic variant A/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs2388334
rs2388334 		5 0.882 0.040 6 98143746 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs34808376
rs34808376 		2 0.925 0.040 7 155456016 intron variant -/GC delins 0.010 1.000 1 2010 2010
dbSNP: rs35753505
rs35753505 		6 0.827 0.080 8 31616625 intergenic variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs6150410
rs6150410 		2 0.925 0.040 7 155454910 intron variant CGCATCCCC/-;CGCATCCCCCGCATCCCC delins 0.28 0.010 1.000 1 2010 2010
dbSNP: rs379863
rs379863
ADA
1 1.000 0.040 20 44632053 intron variant C/T snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs73598374
rs73598374
ADA
8 0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs6551665
rs6551665
ADGRL3
4 0.882 0.040 4 61873823 intron variant G/A snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs2236624
rs2236624
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
2 0.925 0.200 22 24440056 intron variant T/C snv 0.80 0.010 1.000 1 2010 2010
dbSNP: rs765619798
rs765619798
ADRA1A
2 0.925 0.040 8 26864720 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs370956755
rs370956755
ADRA2B
2 0.925 0.040 2 96115984 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2010 2010
dbSNP: rs766483232
rs766483232
APBA2
1 1.000 0.040 15 29114003 missense variant A/C;G snv 4.0E-06; 3.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs1804197
rs1804197
APC
2 1.000 0.040 5 112844212 3 prime UTR variant C/A snv 7.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs465899
rs465899
APC
3 0.882 0.160 5 112841474 synonymous variant G/A snv 0.65 0.60 0.010 1.000 1 2007 2007
dbSNP: rs4446909
rs4446909
ASMT
2 0.925 0.040 Y 1614890 upstream gene variant G/A snv 0.020 1.000 2 2008 2013
dbSNP: rs5989681
rs5989681
ASMT
1 1.000 0.040 Y 1614999 upstream gene variant G/A;C snv 0.020 1.000 2 2008 2013
dbSNP: rs769236847
rs769236847
ASNS ; CZ1P-ASNS
8 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs35424709
rs35424709
ATP13A4
2 0.925 0.040 3 193454190 missense variant T/A snv 8.6E-02 7.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs2278556
rs2278556
ATP2B2
2 0.925 0.040 3 10360419 intron variant G/A snv 0.34 0.010 1.000 1 2011 2011