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: rs104893677
rs104893677
AGTR1
1 1.000 0.120 3 148741880 missense variant C/T snv 1.4E-05 0.800 1.000 1 2005 2005
dbSNP: rs121917742
rs121917742
REN
1 1.000 0.120 1 204159399 missense variant C/T snv 4.0E-06 0.800 1.000 1 2005 2005
dbSNP: rs74315283
rs74315283
AGT
1 1.000 0.120 1 230705933 missense variant C/A;T snv 8.0E-06; 2.4E-05 0.800 1.000 1 2005 2005
dbSNP: rs1135401743
rs1135401743
HAAO ; MTA3
11 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs75462234
rs75462234
PAX2
4 0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.700 1.000 1 2017 2017
dbSNP: rs797045079
rs797045079
ACE
1 1.000 0.120 17 63477106 frameshift variant CTCGGGCCGCCGGGGGCCGG/- del 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs1032242817
rs1032242817
DHCR7
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1057519437
rs1057519437
EBF3
6 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
dbSNP: rs121912702
rs121912702
AGT
1 1.000 0.120 1 230710247 stop gained G/A snv 0.700 0
dbSNP: rs121912704
rs121912704
ACE
1 1.000 0.120 17 63480479 stop gained C/A;G;T snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs121917741
rs121917741
REN
1 1.000 0.120 1 204162117 stop gained G/A snv 4.8E-05 1.4E-05 0.700 0
dbSNP: rs138659167
rs138659167
DHCR7
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 0
dbSNP: rs387906576
rs387906576
ACE
1 1.000 0.120 17 63482666 frameshift variant TGGA/- del 0.700 0
dbSNP: rs387906577
rs387906577
AGTR1
1 1.000 0.120 3 148741144 frameshift variant -/T delins 4.0E-06; 4.0E-06 7.0E-06 0.700 0
dbSNP: rs387906578
rs387906578
AGT
1 1.000 0.120 1 230703309 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs397514687
rs397514687
AGTR1
1 1.000 0.120 3 148741411 stop gained C/G;T snv 4.1E-06; 1.6E-05 0.700 0
dbSNP: rs397514688
rs397514688
ACE
1 1.000 0.120 17 63483172 stop gained C/T snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs397514689
rs397514689
ACE
1 1.000 0.120 17 63488713 stop gained C/T snv 1.6E-05 0.700 0
dbSNP: rs397514690
rs397514690
REN
1 1.000 0.120 1 204162135 stop gained G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs397514691
rs397514691
REN
1 1.000 0.120 1 204160648 missense variant G/T snv 0.700 0
dbSNP: rs778390161
rs778390161
ACE
1 1.000 0.120 17 63490953 splice acceptor variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs779188587
rs779188587
ACE
1 1.000 0.120 17 63496517 splice donor variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs868694193
rs868694193
REN
2 1.000 0.120 1 204161355 missense variant C/T snv 4.1E-06 0.700 0