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: rs13306026
rs13306026
PTGIS
1 1.000 0.040 20 49511026 splice donor variant A/G snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs13333226
rs13333226
UMOD
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.700 0
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.795 39 1993 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.100 0.846 13 1994 2014
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.090 0.667 9 1994 2015
dbSNP: rs5182
rs5182
AGTR1
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.020 0.500 2 1994 2018
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.100 0.947 19 1997 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.895 19 1998 2017
dbSNP: rs1801483
rs1801483
GCGR
7 0.851 0.160 17 81809839 missense variant G/A snv 7.4E-03 6.3E-03 0.030 1.000 3 1998 1999
dbSNP: rs1037733674
rs1037733674
GCG ; LOC101929532
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.020 1.000 2 1998 1999
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: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 < 0.001 1 1998 1998
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.100 0.864 22 1999 2017
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.040 1.000 4 1999 2007
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.030 1.000 3 1999 2018
dbSNP: rs568401628
rs568401628
ACE
4 0.882 0.120 17 63497280 missense variant C/T snv 4.5E-05 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs45483293
rs45483293
HSD11B2
2 1.000 0.040 16 67436012 synonymous variant G/A snv 3.1E-02 2.9E-02 0.010 1.000 1 2000 2000
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2001 2007
dbSNP: rs688
rs688
LDLR
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.010 1.000 1 2001 2001
dbSNP: rs777208537
rs777208537
REN
2 1.000 0.040 1 204156313 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs796145467
rs796145467
LDLR
3 0.925 0.080 19 11123310 synonymous variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.050 1.000 5 2002 2017
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2002 2006
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2002 2002
dbSNP: rs5629
rs5629
PTGIS
3 0.925 0.080 20 49513169 stop gained G/A;T snv 4.0E-06; 0.25 0.010 < 0.001 1 2003 2003