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: rs1057518923
rs1057518923
PKD1
3 0.925 0.200 16 2115395 frameshift variant -/C delins 0.700 0
dbSNP: rs112417755
rs112417755
GATA3
1 1.000 0.080 10 8073738 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs138924661
rs138924661
TRIM25 ; DGKE
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs373909351
rs373909351
IQCB1
6 0.882 0.200 3 121772659 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs398123538
rs398123538
IQCB1
6 0.882 0.200 3 121772605 frameshift variant TG/- delins 8.0E-05 7.0E-05 0.700 0
dbSNP: rs777476179
rs777476179
ALMS1
5 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.020 < 0.001 2 2002 2002
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 < 0.001 1 2008 2008
dbSNP: rs10951982
rs10951982
RAC1
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs2391335
rs2391335
EFNB2
2 0.925 0.080 13 106519637 non coding transcript exon variant T/C;G snv 0.50 0.010 < 0.001 1 2008 2008
dbSNP: rs4253373
rs4253373
KLKB1
2 0.925 0.080 4 186250250 missense variant C/A snv 6.7E-04 2.5E-03 0.010 < 0.001 1 2000 2000
dbSNP: rs6954996
rs6954996
RAC1
2 0.925 0.080 7 6401627 non coding transcript exon variant G/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs7490924
rs7490924
EFNB2
2 0.925 0.080 13 106519396 non coding transcript exon variant A/G snv 0.51 0.010 < 0.001 1 2008 2008
dbSNP: rs904520404
rs904520404
DCDC2
2 0.925 0.080 6 24302010 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs9374
rs9374
RAC1
2 0.925 0.080 7 6402740 3 prime UTR variant G/A snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.020 0.500 2 2003 2003
dbSNP: rs5355
rs5355
SELE ; C1orf112
14 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 0.020 0.500 2 2006 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.090 0.778 9 1997 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.800 10 1999 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.060 0.833 6 1997 2009
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 1.000 14 2000 2014
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.050 1.000 5 2005 2016
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.050 1.000 5 2005 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2008 2012
dbSNP: rs12437854
rs12437854
LOC107983974
2 0.925 0.080 15 93598604 intron variant T/G snv 0.10 0.030 1.000 3 2012 2014