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: rs387907087
rs387907087
FOXRED1
3 0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs542343726
rs542343726
BRCA2
1 13 32332532 missense variant T/C snv 8.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs571825723
rs571825723
PSEN1
4 0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs121908572
rs121908572
BCS1L ; ZNF142
4 0.882 0.280 2 218661283 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs2307441
rs2307441
POLG
6 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.020 1.000 2 2006 2015
dbSNP: rs1003624852
rs1003624852
CYC1
1 8 144096675 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs207460001
rs207460001
CYTB ; ND6
2 MT 15197 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs115079861
rs115079861
RMND1
3 1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs144972972
rs144972972
RMND1
2 1.000 6 151430154 missense variant T/C snv 2.0E-04 2.4E-04 0.700 1.000 1 2016 2016
dbSNP: rs199730889
rs199730889
TRMT10C
2 1.000 3 101565323 missense variant G/A;T snv 4.0E-06; 1.1E-04 0.700 1.000 1 2016 2016
dbSNP: rs370863743
rs370863743
RMND1
1 6 151436526 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs397515421
rs397515421
RMND1
2 1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs771894262
rs771894262
RMND1
1 6 151433213 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs773470671
rs773470671
RMND1
1 6 151427481 splice donor variant C/T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs875989831
rs875989831
TRMT10C
2 1.000 3 101565595 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs886037771
rs886037771
RMND1
1 6 151405734 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs886037772
rs886037772
RMND1
1 6 151436494 stop gained G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037773
rs886037773
RMND1
1 6 151405719 splice donor variant C/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037835
rs886037835
TMEM126B
2 1.000 11 85635669 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.720 1.000 3 2006 2017
dbSNP: rs113994099
rs113994099
POLG
10 0.827 0.240 15 89320883 missense variant T/C snv 0.710 1.000 2 2007 2017
dbSNP: rs111033573
rs111033573
TWNK ; MRPL43
2 1.000 0.200 10 100989285 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs111033577
rs111033577
TWNK ; MRPL43
2 1.000 0.200 10 100989352 missense variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
3 0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 1 2017 2017