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: rs104894156
rs104894156
1 1.000 0.040 10 122582793 missense variant G/T snv 0.700 0
dbSNP: rs1064794096
rs1064794096
2 1.000 0.040 10 87864514 missense variant A/C;T snv 0.700 0
dbSNP: rs1554893792
rs1554893792
1 1.000 0.040 10 87894052 missense variant G/A snv 0.700 0
dbSNP: rs63751110
rs63751110
2 0.925 0.160 2 47410322 missense variant T/C;G snv 0.700 0
dbSNP: rs786202398
rs786202398
2 0.925 0.080 10 87925518 stop gained T/A;G snv 0.700 0
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2005 2005
dbSNP: rs1052555
rs1052555
3 0.882 0.040 19 45352266 synonymous variant G/A snv 0.28 0.26 0.010 < 0.001 1 2014 2014
dbSNP: rs12718945
rs12718945
1 1.000 0.040 7 55125270 intron variant T/G snv 0.51 0.010 < 0.001 1 2017 2017
dbSNP: rs12826786
rs12826786
26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2017 2017
dbSNP: rs12888930
rs12888930
1 1.000 0.040 14 22779374 intron variant C/T snv 0.32 0.010 < 0.001 1 2017 2017
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 < 0.001 1 2008 2008
dbSNP: rs17006625
rs17006625
3 0.925 0.080 3 20119604 missense variant A/C;G snv 4.0E-06; 3.3E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs17172432
rs17172432
3 0.882 0.080 7 55073624 intron variant T/C snv 0.31 0.010 < 0.001 1 2017 2017
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 < 0.001 1 2008 2008
dbSNP: rs1805015
rs1805015
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 < 0.001 1 2014 2014
dbSNP: rs2227306
rs2227306
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 < 0.001 1 2016 2016
dbSNP: rs3136038
rs3136038
13 0.763 0.200 16 13919522 upstream gene variant C/T snv 0.36 0.010 < 0.001 1 2014 2014
dbSNP: rs3213801
rs3213801
3 0.882 0.080 5 75581441 synonymous variant C/T snv 0.24 0.22 0.010 < 0.001 1 2019 2019
dbSNP: rs3752651
rs3752651
1 1.000 0.040 7 55161850 intron variant T/C snv 0.15 0.010 < 0.001 1 2017 2017
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 < 0.001 1 2016 2016
dbSNP: rs4947492
rs4947492
2 0.925 0.040 7 55120299 intron variant G/A snv 0.50 0.010 < 0.001 1 2017 2017
dbSNP: rs5744533
rs5744533
6 0.807 0.120 5 75510279 intron variant C/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs845552
rs845552
1 1.000 0.040 7 55177814 intron variant A/G snv 0.43 0.010 < 0.001 1 2017 2017
dbSNP: rs920778
rs920778
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.010 < 0.001 1 2017 2017
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.040 0.500 4 2003 2014