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: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1554317002
rs1554317002
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555174708
rs1555174708
4 0.925 12 48916993 frameshift variant A/- del 0.700 0
dbSNP: rs1566658823
rs1566658823
4 1.000 0.120 14 54844138 missense variant A/G snv 0.700 0
dbSNP: rs200956636
rs200956636
5 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 0
dbSNP: rs201943194
rs201943194
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs780533096
rs780533096
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs495828
rs495828
24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.020 1.000 2 2011 2014
dbSNP: rs11209716
rs11209716
1 1 70911967 intron variant T/C snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs121912633
rs121912633
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2016848
rs2016848
MME
1 3 155140896 intron variant G/A snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs4344
rs4344
ACE
2 17 63489363 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs77038916
rs77038916
2 1.000 0.080 10 69408971 missense variant C/T snv 7.0E-02 2.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs8012552
rs8012552
1 14 96222430 intron variant C/T snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs8016905
rs8016905
1 14 96209596 intron variant A/C;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs8065080
rs8065080
11 0.827 0.200 17 3577153 missense variant T/C snv 0.37 0.32 0.010 1.000 1 2010 2010