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: rs17047586
rs17047586
2 0.925 0.120 3 68363724 intron variant A/G snv 8.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs2070074
rs2070074
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 2003 2003
dbSNP: rs4733220
rs4733220
WRN
6 0.807 0.120 8 31043374 intron variant A/G snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs777547119
rs777547119
HGD
1 1.000 0.040 3 120675839 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs778768887
rs778768887
1 1.000 0.040 2 208124472 start lost A/G snv 1.7E-05 0.010 1.000 1 2011 2011
dbSNP: rs8007903
rs8007903
2 0.925 0.120 14 103671306 intron variant A/G snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs765919785
rs765919785
4 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
dbSNP: rs118203965
rs118203965
2 0.925 0.040 20 33850969 missense variant A/T snv 0.010 1.000 1 2020 2020
dbSNP: rs727502810
rs727502810
TUB ; RIC3
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs104893736
rs104893736
5 0.827 0.040 3 186539566 missense variant C/A snv 0.020 1.000 2 2009 2016
dbSNP: rs1483130765
rs1483130765
2 0.925 0.040 3 186538833 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs5030732
rs5030732
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 < 0.001 1 2011 2011
dbSNP: rs139609998
rs139609998
1 1.000 0.040 2 208145915 missense variant C/A;G snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs387907339
rs387907339
4 0.882 0.280 11 111908967 missense variant C/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs644242
rs644242
3 0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs7543472
rs7543472
1 1.000 0.040 1 16113897 regulatory region variant C/A;G;T snv 0.020 1.000 2 2012 2016
dbSNP: rs140372256
rs140372256
2 0.925 0.040 2 208160859 stop gained C/A;G;T snv 1.5E-04; 1.6E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs33972313
rs33972313
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs398122392
rs398122392
3 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs765019311
rs765019311
AVP
2 0.925 0.040 20 3082716 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs104893685
rs104893685
3 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs1250875000
rs1250875000
2 0.925 0.040 21 6560927 missense variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs137853924
rs137853924
4 0.851 0.200 2 208128343 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs150857132
rs150857132
4 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs17175798
rs17175798
3 0.925 0.040 15 79171618 intron variant C/A;T snv 0.010 < 0.001 1 2011 2011