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: rs869312687
rs869312687
RIT1
8 0.925 0.080 1 155910695 missense variant T/G snv 0.700 0
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.050 1.000 5 1999 2003
dbSNP: rs1957757
rs1957757
HIF1A ; HIF1A-AS3
1 1.000 0.080 14 61730230 intron variant T/C snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs2071090
rs2071090
RYR1
1 1.000 0.080 19 38524814 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.010 1.000 1 2018 2018
dbSNP: rs9594782
rs9594782
TNFSF11
1 1.000 0.080 13 42577050 intron variant T/C snv 4.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2009 2010
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1060501439
rs1060501439
MYH7
4 0.925 0.080 14 23424938 missense variant T/A snv 0.700 0
dbSNP: rs768079285
rs768079285
NEBL
2 1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06 0.700 0
dbSNP: rs1349963459
rs1349963459
PSEN1
2 0.925 0.080 14 73170901 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1436109
rs1436109
NCAM1
3 1.000 0.080 11 113120896 intron variant G/T snv 8.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs2292462
rs2292462
NMB
2 1.000 0.080 15 84657523 intron variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.030 1.000 3 2008 2014
dbSNP: rs10500279
rs10500279
RYR1
1 1.000 0.080 19 38544428 intron variant G/C snv 5.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 < 0.001 1 2009 2009
dbSNP: rs2073618
rs2073618
TNFRSF11B ; COLEC10
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 1.000 1 2017 2017
dbSNP: rs121908596
rs121908596
MAP2K1
7 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1974201
rs1974201
ENPP1
1 1.000 0.080 6 131889981 intron variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2070951
rs2070951
NR3C2
9 0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 0.010 1.000 1 2016 2016
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs397516005
rs397516005
MYBPC3
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.040 1.000 4 2015 2019
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.030 1.000 3 1996 2007
dbSNP: rs104894503
rs104894503
TPM1
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.020 1.000 2 2007 2019