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: rs112384084
rs112384084
1 1.000 0.040 3 195867623 missense variant C/T snv 1.4E-02 1.1E-02 0.700 0
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.889 27 1996 2019
dbSNP: rs6356
rs6356
TH
5 0.827 0.240 11 2169721 missense variant C/T snv 0.43 0.32 0.040 0.500 4 1996 2018
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.100 0.980 153 1997 2020
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.100 0.957 70 1998 2019
dbSNP: rs121917763
rs121917763
TH
5 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs906807
rs906807
1 1.000 0.040 18 9117869 missense variant T/C;G snv 0.80; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs121917767
rs121917767
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.100 1.000 11 1999 2017
dbSNP: rs531523381
rs531523381
1 1.000 0.040 10 86958785 missense variant G/C snv 0.080 1.000 8 1999 2018
dbSNP: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.050 1.000 5 1999 2020
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 1.000 2 1999 2010
dbSNP: rs1141718
rs1141718
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs747760223
rs747760223
3 0.882 0.120 3 39412034 missense variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 1999 1999
dbSNP: rs5030732
rs5030732
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.100 0.926 27 2000 2017
dbSNP: rs62643364
rs62643364
7 0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04 0.060 1.000 6 2000 2019
dbSNP: rs4866
rs4866
5 0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs56092260
rs56092260
1 1.000 0.040 6 161386865 missense variant G/A snv 2.8E-04 1.2E-04 0.010 1.000 1 2000 2000
dbSNP: rs1395246796
rs1395246796
2 0.925 0.040 5 122425421 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs6283
rs6283
4 0.882 0.120 4 9783007 synonymous variant C/T snv 0.64 0.64 0.010 < 0.001 1 2001 2001
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.833 30 2002 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.821 28 2002 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 0.571 7 2002 2016
dbSNP: rs1801334
rs1801334
4 0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02 0.020 1.000 2 2002 2010
dbSNP: rs1806201
rs1806201
8 0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 0.020 1.000 2 2002 2010
dbSNP: rs199951903
rs199951903
CYTB ; ND6
2 0.925 0.120 MT 15497 missense variant G/A snv 0.020 1.000 2 2002 2002