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: rs121434629
rs121434629
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
dbSNP: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs267608150
rs267608150
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs63750250
rs63750250
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 0
dbSNP: rs869312777
rs869312777
3 0.925 0.120 10 87933245 missense variant C/G snv 0.700 0
dbSNP: rs1257715362
rs1257715362
3 0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1351687973
rs1351687973
3 0.925 0.120 1 3731497 missense variant G/A snv 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs1555525126
rs1555525126
3 0.925 0.120 17 7673749 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs535311760
rs535311760
3 0.925 0.120 1 3730979 missense variant G/A snv 1.2E-05; 8.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2004 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.333 3 2004 2017
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2004 2011
dbSNP: rs1802710
rs1802710
3 14 100734308 synonymous variant T/A;C snv 0.63 0.010 1.000 1 2004 2004
dbSNP: rs773919809
rs773919809
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2006 2006
dbSNP: rs3135932
rs3135932
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2006 2006
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2006 2006
dbSNP: rs995922697
rs995922697
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913485
rs121913485
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2008 2010