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: rs3834458
rs3834458
7 0.807 0.200 11 61827449 intron variant T/- del 0.28 0.700 1.000 1 2018 2018
dbSNP: rs112329286
rs112329286
4 1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24 0.700 1.000 1 2018 2018
dbSNP: rs11320420
rs11320420
2 1.000 0.080 11 61774535 intron variant AAAAA/-;AAA;AAAA;AAAAAA delins 0.30 0.700 1.000 1 2018 2018
dbSNP: rs138873021
rs138873021
1 1.000 0.080 8 130951170 intron variant AGA/- delins 0.68 0.700 1.000 1 2019 2019
dbSNP: rs142864856
rs142864856
2 1.000 0.080 2 151100757 intergenic variant CA/-;CACA;CACACA;CACACACA delins 0.700 1.000 1 2018 2018
dbSNP: rs16347
rs16347
2 0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70 0.010 1.000 1 2003 2003
dbSNP: rs201631095
rs201631095
2 1.000 0.080 19 8208084 intron variant AAA/-;A;AA;AAAA;AAAAA;AAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2016 2016
dbSNP: rs35473591
rs35473591
2 1.000 0.080 11 61818856 intron variant -/T delins 0.28 0.700 1.000 1 2018 2018
dbSNP: rs373971520
rs373971520
2 0.925 0.080 19 2568808 intron variant CA/-;CACA delins 0.010 1.000 1 2019 2019
dbSNP: rs3917887
rs3917887
8 0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33 0.010 1.000 1 2014 2014
dbSNP: rs57668028
rs57668028
2 1.000 0.080 11 61824524 intron variant AA/-;AAA;AAAA delins 7.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs5792235
rs5792235
2 1.000 0.080 11 61828851 intron variant A/- delins 0.30 0.700 1.000 1 2018 2018
dbSNP: rs59834205
rs59834205
3 0.882 0.200 4 9959396 intron variant -/GA delins 1.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 1.000 14 2000 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.833 12 1999 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: 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: rs12917707
rs12917707
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.720 1.000 5 2009 2015
dbSNP: rs1801282
rs1801282
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
121 0.510 0.840 3 12379739 missense variant C/G snv 0.050 1.000 5 2005 2016
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2008 2012
dbSNP: rs12437854
rs12437854
2 0.925 0.080 15 93598604 intron variant T/G snv 0.10 0.030 1.000 3 2012 2014
dbSNP: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.030 1.000 3 2003 2016
dbSNP: rs3732379
rs3732379
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.030 1.000 3 2003 2016