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: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs796053124
rs796053124
4 0.882 0.080 2 165354232 missense variant G/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs121908216
rs121908216
7 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
dbSNP: rs121912683
rs121912683
9 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs144948296
rs144948296
3 0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04 0.700 0
dbSNP: rs1555735545
rs1555735545
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs397507478
rs397507478
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs61755320
rs61755320
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
dbSNP: rs797045032
rs797045032
11 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2013 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1048101
rs1048101
5 0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56 0.010 1.000 1 2018 2018
dbSNP: rs16148
rs16148
1 7 24282719 upstream gene variant T/C snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs16476
rs16476
1 7 24290600 intron variant T/G snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs16979956
rs16979956
BMX ; ACE2
2 X 15525068 intron variant C/T snv 4.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs1783901
rs1783901
1 11 123642798 intron variant C/T snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs1939012
rs1939012
2 1.000 0.040 11 102724404 intron variant T/C snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs2304297
rs2304297
2 8 42753056 3 prime UTR variant G/C snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs28365031
rs28365031
1 2 96115249 frameshift variant -/TCCTCTTC delins 5.8E-06 0.010 1.000 1 2018 2018
dbSNP: rs35697037
rs35697037
BMX ; ACE2
2 X 15523993 intron variant G/A snv 0.37 0.010 1.000 1 2014 2014