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: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1867283
rs1867283
5 0.925 0.080 9 84835851 intron variant G/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs2044117
rs2044117
2 13 101055958 intron variant G/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs2070106
rs2070106
CNP
4 0.925 0.160 17 41973846 synonymous variant G/A snv 0.31 0.25 0.010 1.000 1 2012 2012
dbSNP: rs2391191
rs2391191
7 0.807 0.080 13 105467097 missense variant G/A snv 0.40 0.32 0.010 1.000 1 2009 2009
dbSNP: rs2524005
rs2524005
5 0.882 0.160 6 29931900 upstream gene variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs3738401
rs3738401
4 0.882 0.080 1 231694549 missense variant G/A snv 0.30 0.26 0.010 1.000 1 2007 2007
dbSNP: rs3924999
rs3924999
5 0.851 0.040 8 32595840 missense variant G/A snv 0.40 0.31 0.010 1.000 1 2010 2010
dbSNP: rs6024905
rs6024905
BPI
2 20 38329435 intron variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs6046396
rs6046396
2 20 19871859 non coding transcript exon variant G/A snv 0.68 0.800 1.000 1 2010 2010
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2015 2015
dbSNP: rs6444931
rs6444931
2 3 170445686 intron variant G/A snv 0.85 0.800 1.000 1 2010 2010
dbSNP: rs6484218
rs6484218
5 0.882 0.040 11 10369034 intron variant G/A snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs7872515
rs7872515
4 0.925 0.040 9 92060258 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs7912580
rs7912580
2 1.000 0.040 10 62156213 regulatory region variant G/A snv 7.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs11789399
rs11789399
5 0.882 0.040 9 118597008 intergenic variant G/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs143396368
rs143396368
FXN
7 0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2054399
rs2054399
4 0.925 0.040 3 178623794 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs4765905
rs4765905
6 0.827 0.040 12 2240418 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs7863476
rs7863476
2 1.000 0.040 9 26915927 intron variant G/A;C snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs1039002
rs1039002
5 0.851 0.080 6 165741969 intron variant G/A;T snv 0.010 1.000 1 2011 2011