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: 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: 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: 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: rs199951903
rs199951903
CYTB ; ND6
2 0.925 0.120 MT 15497 missense variant G/A snv 0.020 1.000 2 2002 2002
dbSNP: rs6347
rs6347
4 0.851 0.080 5 1411297 synonymous variant T/C snv 0.23 0.32 0.020 0.500 2 2002 2002
dbSNP: rs1258359845
rs1258359845
1 1.000 0.040 6 161360092 synonymous variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1277892620
rs1277892620
2 0.925 0.120 17 37242036 synonymous variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2958720
rs2958720
1 1.000 0.040 15 78466335 missense variant C/G snv 2.8E-02 0.010 < 0.001 1 2002 2002
dbSNP: rs376011164
rs376011164
1 1.000 0.040 15 78471857 missense variant C/G snv 4.4E-05 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2003 2003
dbSNP: rs1561244
rs1561244
1 1.000 0.040 2 72902257 intergenic variant G/A;T snv 0.010 1.000 1 2003 2003
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2003 2003
dbSNP: rs1876487
rs1876487
SPR
2 1.000 0.040 2 72887223 upstream gene variant A/C snv 0.54 0.010 1.000 1 2003 2003
dbSNP: rs2421095
rs2421095
SPR
1 1.000 0.040 2 72886395 upstream gene variant G/A snv 0.86 0.010 1.000 1 2003 2003
dbSNP: rs1043424
rs1043424
1 1.000 0.040 1 20650507 missense variant A/C snv 0.29 0.28 0.010 1.000 1 2004 2004
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1210737543
rs1210737543
1 1.000 0.040 10 87952124 missense variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs138050841
rs138050841
2 0.925 0.040 1 20637894 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs1989754
rs1989754
1 1.000 0.040 8 17000966 intron variant G/C snv 0.36 0.010 1.000 1 2004 2004