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: rs861539
rs861539
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.010 1.000 1 2007 2007
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.700 0
dbSNP: rs55861249
rs55861249
ATM
3 0.923 0.250 11 108227806 stop gained C/A,T snp 7.2E-05; 2.0E-05 3.2E-04 0.700 1 2015 2015
dbSNP: rs3218706
rs3218706
ATM
3 0.878 0.071 11 108244812 synonymous variant A/G,T snp 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs730881336
rs730881336
ATM
3 0.923 0.250 11 108244867 stop gained C/T snp 8.0E-06 0.700 1 2015 2015
dbSNP: rs748840480
rs748840480
ATM
3 0.923 0.250 11 108245027 splice donor variant G/A,C,T snp 1.6E-05 3.2E-05; 3.2E-05 0.700 1 2015 2015
dbSNP: rs730881346
rs730881346
ATM
3 0.923 0.250 11 108257471 intron variant T/G snp 8.0E-06 3.2E-05 0.700 1 2015 2015
dbSNP: rs587779833
rs587779833
ATM
3 0.923 0.250 11 108279578 stop gained C/G snp 4.0E-06 0.700 1 2015 2015
dbSNP: rs587779852
rs587779852
5 0.846 0.250 11 108312424 stop gained G/T snp 4.4E-05 0.700 1 2015 2015
dbSNP: rs777741666
rs777741666
2 1.000 0.071 11 108327759 splice donor variant G/A,T snp 0.700 0
dbSNP: rs28904921
rs28904921
12 0.756 0.286 11 108329202 missense variant T/G snp 4.0E-05 6.4E-05 0.710 1.000 2 2004 2015
dbSNP: rs587779866
rs587779866
3 0.923 0.250 11 108331877 splice acceptor variant A/C,G snp 8.0E-06 0.700 1 2015 2015
dbSNP: rs786202826
rs786202826
4 0.878 0.250 11 108353805 missense variant A/G,T snp 4.0E-06 0.700 1 2015 2015
dbSNP: rs770641163
rs770641163
4 0.878 0.321 11 108365208 stop gained C/G,T snp 4.0E-06; 1.2E-05 0.700 1 2015 2015
dbSNP: rs566164
rs566164
3 1.000 0.071 6 109185258 intron variant A/G snp 0.71 0.010 1.000 1 2013 2013
dbSNP: rs12255372
rs12255372
20 0.679 0.357 10 113049143 intron variant G/A,T snp 0.24 0.010 1.000 1 2006 2006
dbSNP: rs760146707
rs760146707
5 0.846 0.250 5 132579997 frameshift variant GT/G in-del 0.010 < 0.001 1 2009 2009
dbSNP: rs28359178
rs28359178
ND5
2 0.923 0.214 MT 13708 missense variant snp 0.010 1.000 1 2016 2016
dbSNP: rs895819
rs895819
25 0.667 0.286 19 13836478 non coding transcript exon variant T/C snp 0.34 0.38 0.010 1.000 1 2011 2011
dbSNP: rs527236202
rs527236202
1 1.000 0.071 MT 14732 non coding transcript exon variant snp 0.700 0
dbSNP: rs193302980
rs193302980
1 1.000 0.071 MT 14766 missense variant snp 0.700 0
dbSNP: rs527236041
rs527236041
1 1.000 0.071 MT 14766 missense variant snp 0.700 0
dbSNP: rs193302982
rs193302982
1 1.000 0.071 MT 14783 missense variant snp 0.700 0
dbSNP: rs527236042
rs527236042
1 1.000 0.071 MT 14783 synonymous variant snp 0.700 0
dbSNP: rs527236164
rs527236164
1 1.000 0.071 MT 14800 synonymous variant snp 0.700 0