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: rs1554887097
rs1554887097
TWNK ; MRPL43
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887213
rs1554887213
TWNK
2 1.000 0.200 10 100989774 splice acceptor variant G/T 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
dbSNP: rs1555745989
rs1555745989
ATP5F1D
3 0.925 0.040 19 1244118 missense variant T/G snv 0.710 1.000 1 2018 2018
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
2 1.000 0.120 MT 8839 missense variant G/A;C snv 0.700 0
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs1566433812
rs1566433812
OXA1L ; LOC105370404
1 14 22768050 frameshift variant -/CAGAGCAG delins 0.700 1.000 1 2018 2018
dbSNP: rs1569463838
rs1569463838
NDUFA6 ; SMDT1
2 1.000 22 42086238 frameshift variant CT/- delins 0.700 0
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 1.000 2 2001 2004
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
4 0.882 0.120 MT 9185 missense variant T/C snv 0.700 0
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: rs200944917
rs200944917
TOP3A
1 17 18305208 stop gained G/A;T snv 1.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs207460001
rs207460001
CYTB ; ND6
2 MT 15197 missense variant T/C snv 0.010 1.000 1 2015 2015
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: rs267606897
rs267606897
CYTB ; ND5
4 0.882 0.200 MT 13513 missense variant G/A snv 0.700 0
dbSNP: rs2853493
rs2853493
ND4 ; ND5
1 MT 11467 synonymous variant A/G snv 0.700 0
dbSNP: rs2853499
rs2853499
ND4 ; ND5
1 MT 12372 synonymous variant G/A snv 0.700 0
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
8 0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs28937887
rs28937887
TWNK ; MRPL43
2 1.000 10 100989211 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs368849022
rs368849022
TXNRD1
1 12 104327633 synonymous variant T/C snv 1.2E-04 9.8E-05 0.010 1.000 1 2010 2010
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: rs370475970
rs370475970
GFER ; NOXO1
1 16 1985996 missense variant C/T snv 3.2E-05 7.7E-05 0.700 1.000 1 2017 2017
dbSNP: rs370863743
rs370863743
RMND1
1 6 151436526 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs376902371
rs376902371
TOP3A
2 1.000 17 18308367 missense variant T/C snv 6.4E-05 3.5E-05 0.700 1.000 1 2018 2018