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: rs12140311
rs12140311
CLCNKB
3 1.000 0.040 1 16052230 missense variant A/C;T snv 8.0E-06; 9.6E-02 0.030 0.667 3 2004 2011
dbSNP: rs10501367
rs10501367
APLNR
2 1.000 0.040 11 57238113 upstream gene variant T/C snv 0.73 0.020 1.000 2 2010 2016
dbSNP: rs1126742
rs1126742
CYP4A11
4 0.925 0.040 1 46932824 missense variant A/G snv 0.17 0.20 0.020 1.000 2 2008 2017
dbSNP: rs1212768461
rs1212768461
TSC1
2 1.000 0.040 9 132897292 missense variant T/A;C snv 1.4E-05 0.020 1.000 2 2008 2012
dbSNP: rs12720742
rs12720742
ACE
1 1.000 0.040 17 63496923 missense variant C/G;T snv 2.4E-05; 3.2E-04 0.020 1.000 2 1998 2004
dbSNP: rs2011616
rs2011616
EMILIN1
2 1.000 0.040 2 27079693 intron variant G/A snv 0.37 0.020 1.000 2 2009 2010
dbSNP: rs2254524
rs2254524
LSS ; SNORD159
2 1.000 0.040 21 46194555 missense variant A/C;T snv 0.66; 1.6E-05 0.020 1.000 2 2016 2019
dbSNP: rs2960306
rs2960306
GRK4
1 1.000 0.040 4 2988772 missense variant G/A;T snv 4.8E-05; 0.32 0.020 1.000 2 2006 2016
dbSNP: rs5194
rs5194
AGTR2
1 1.000 0.040 X 116173577 3 prime UTR variant A/G snv 0.020 0.500 2 2006 2014
dbSNP: rs7119375
rs7119375
APLNR
2 1.000 0.040 11 57238490 upstream gene variant A/G;T snv 0.020 1.000 2 2010 2016
dbSNP: rs10199956
rs10199956
RAMP1
1 1.000 0.040 2 237907946 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1047047
rs1047047
GUCA2B
1 1.000 0.040 1 42153468 synonymous variant A/C;G;T snv 6.4E-05; 0.21; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1065297
rs1065297
CXCL12
3 0.925 0.040 10 44370528 3 prime UTR variant A/G snv 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs10803414
rs10803414
CLCNKB
2 1.000 0.040 1 16054087 intron variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1093538
rs1093538
FAM189A1
2 1.000 0.040 15 29326124 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs11542844
rs11542844
SCNN1A ; LOC107984500
1 1.000 0.040 12 6355415 missense variant C/T snv 7.9E-02 0.17 0.010 1.000 1 2008 2008
dbSNP: rs11559300
rs11559300
GNG5 ; SPATA1
1 1.000 0.040 1 84506076 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11685424
rs11685424
IL1RL1
2 0.925 0.040 2 102310521 upstream gene variant G/A snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs11959427
rs11959427
ADRB2
1 1.000 0.040 5 148826465 5 prime UTR variant C/T snv 0.68 0.010 < 0.001 1 2015 2015
dbSNP: rs1199475313
rs1199475313
ADRB3
4 0.851 0.040 8 37966277 missense variant T/C snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121918359
rs121918359
SMAD9
2 0.925 0.040 13 36872722 stop gained G/A;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1221928144
rs1221928144
ACE
1 1.000 0.040 17 63477950 missense variant G/A;C snv 8.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs12502572
rs12502572
UCP1
1 1.000 0.040 4 140563980 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs12695895
rs12695895
AGTR1
3 0.925 0.040 3 148725481 intron variant C/T snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs12708965
rs12708965
SLC12A3 ; MIR6863
1 1.000 0.040 16 56902407 missense variant C/T snv 3.1E-02 3.5E-02 0.010 1.000 1 2007 2007