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: rs200944917
rs200944917
TOP3A
1 17 18305208 stop gained G/A;T snv 1.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs369227537
rs369227537
SPG7
2 1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs753829320
rs753829320
MFF
2 1.000 2 227355756 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs886037772
rs886037772
RMND1
1 6 151436494 stop gained G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs758833609
rs758833609
NDUFA6 ; SMDT1
2 1.000 22 42086305 stop gained C/A;T snv 8.0E-06; 4.4E-05 0.700 0
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: rs143319805
rs143319805
OPA1
12 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.020 1.000 2 2017 2020
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: 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
dbSNP: rs113994096
rs113994096
POLG
8 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 1.000 1 2017 2017
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: rs121918046
rs121918046
POLG
4 0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918054
rs121918054
POLG
8 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1365700579
rs1365700579
YARS2
1 12 32750105 missense variant C/G;T snv 8.0E-06 0.700 1.000 1 2017 2017
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: rs1553877864
rs1553877864
OPA1
1 3 193643430 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554042187
rs1554042187
GFM2
1 5 74758878 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887028
rs1554887028
TWNK ; MRPL43
1 10 100989213 missense variant C/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887222
rs1554887222
TWNK
1 10 100989791 missense variant T/C snv 0.700 1.000 1 2017 2017