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: rs1057518802
rs1057518802
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs1064796765
rs1064796765
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1303044966
rs1303044966
4 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1339616347
rs1339616347
WRN
6 0.925 0.120 8 31068328 splice donor variant G/T snv 0.700 0
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs1423415130
rs1423415130
6 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1554781700
rs1554781700
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1568480054
rs1568480054
2 0.925 0.200 19 51380577 missense variant G/A snv 0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
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: rs863225045
rs863225045
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs113624356
rs113624356
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 < 0.001 1 2015 2015
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: rs17175798
rs17175798
3 0.925 0.040 15 79171618 intron variant C/A;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs3754334
rs3754334
2 0.925 0.040 1 16125272 synonymous variant G/A snv 0.28 0.24 0.010 < 0.001 1 2012 2012
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: rs6596473
rs6596473
7 0.807 0.120 5 139374887 intron variant G/C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs79121622
rs79121622
5 0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs8027411
rs8027411
4 0.882 0.040 15 79168687 intron variant G/T snv 0.52 0.010 < 0.001 1 2011 2011
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 < 0.001 1 2019 2019
dbSNP: rs1463326176
rs1463326176
4 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.060 1.000 6 2005 2019
dbSNP: rs28931605
rs28931605
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.060 1.000 6 2005 2019
dbSNP: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.040 1.000 4 2011 2019
dbSNP: rs121909596
rs121909596
3 0.925 0.040 2 208124188 missense variant C/T snv 0.030 1.000 3 2005 2018
dbSNP: rs2165241
rs2165241
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.030 1.000 3 2008 2015