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: rs1135401746
rs1135401746
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs121909646
rs121909646
3 0.882 0.120 13 28018504 missense variant T/A;G snv 0.700 0
dbSNP: rs121913232
rs121913232
2 0.925 0.120 13 28018500 missense variant G/C snv 0.700 0
dbSNP: rs121913487
rs121913487
2 0.925 0.120 13 28018503 missense variant A/C;T snv 0.700 0
dbSNP: rs121913488
rs121913488
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1478147351
rs1478147351
1 1.000 0.120 3 47101485 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs186148199
rs186148199
1 1.000 0.120 3 47123837 missense variant C/T snv 8.9E-05 3.5E-05 0.700 0
dbSNP: rs188887061
rs188887061
1 1.000 0.120 3 47122353 missense variant C/T snv 4.2E-04 7.0E-05 0.700 0
dbSNP: rs398123063
rs398123063
2 0.925 0.120 9 37002705 missense variant C/T snv 0.700 0
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2002 2002
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.010 1.000 1 2004 2004
dbSNP: rs121913448
rs121913448
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs387906517
rs387906517
6 0.827 0.120 9 130862919 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs11155133
rs11155133
2 0.925 0.200 6 140848688 intron variant A/G snv 8.5E-02 0.800 1.000 1 2009 2009
dbSNP: rs1569175
rs1569175
1 1.000 0.120 2 200157231 intergenic variant T/C snv 0.88 0.700 1.000 1 2009 2009
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs17007695
rs17007695
4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs2089222
rs2089222
2 0.925 0.200 12 116564853 intron variant G/A snv 0.12 0.800 1.000 1 2009 2009
dbSNP: rs2191566
rs2191566
2 0.925 0.200 19 44007237 intron variant G/T snv 0.62 0.800 1.000 1 2009 2009
dbSNP: rs2242041
rs2242041
2 0.925 0.120 7 50461751 intron variant C/G snv 7.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs359312
rs359312
1 1.000 0.120 10 17346144 intron variant C/T snv 3.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs1966862
rs1966862
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010