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: 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: 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: 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: rs1320702652
rs1320702652
MFAP1
11 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 0.040 1.000 4 2003 2014
dbSNP: rs10927887
rs10927887
CLCNKA
3 0.925 0.040 1 16024780 missense variant A/C;G snv 0.55 0.020 1.000 2 2011 2013
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: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs121918080
rs121918080
TTR
6 0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs121918090
rs121918090
TTR
8 0.790 0.240 18 31593026 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs121918598
rs121918598
RYR2
4 0.851 0.080 1 237648523 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1258130495
rs1258130495
EDNRA
3 0.882 0.040 4 147485727 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1303946678
rs1303946678
CYP2D6 ; NDUFA6-DT
3 0.925 0.040 22 42126851 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs13058338
rs13058338
RAC2
4 1.000 0.040 22 37236730 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1337916669
rs1337916669
HFE ; LOC108783645
2 0.925 0.040 6 26092879 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1429117513
rs1429117513
LAG3
2 0.925 0.040 12 6775316 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1595064
rs1595064
ERBB4
2 0.925 0.040 2 211378020 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs17740607
rs17740607
HDC
2 0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1800779
rs1800779
NOS3
9 0.763 0.320 7 150992855 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs200432861
rs200432861
PKHD1
1 1.000 0.040 6 51775844 missense variant G/A;C snv 2.4E-05; 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs200536955
rs200536955
HSPB6 ; PROSER3
3 0.925 0.040 19 35756980 missense variant G/A;T snv 7.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs2549513
rs2549513
MAF
4 0.851 0.080 16 79516830 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007