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: rs144351944
rs144351944
1 1.000 0.040 3 100114095 5 prime UTR variant T/G snv 8.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs7792525
rs7792525
1 1.000 0.040 7 100374499 non coding transcript exon variant A/G snv 0.15 0.16 0.010 1.000 1 2014 2014
dbSNP: rs7803454
rs7803454
4 0.851 0.040 7 100393925 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs7890586
rs7890586
1 1.000 0.040 X 100582827 upstream gene variant G/A snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs2073163
rs2073163
2 0.925 0.120 X 100594054 intron variant T/C snv 0.41 0.39 0.010 1.000 1 2009 2009
dbSNP: rs1155974
rs1155974
2 0.925 0.120 X 100598284 intron variant C/T snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs10895322
rs10895322
4 0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs67538026
rs67538026
4 0.851 0.040 19 1031439 intron variant C/T snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs3752228
rs3752228
1 1.000 0.040 19 1041165 intron variant C/T snv 6.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs2740488
rs2740488
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs1883025
rs1883025
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.740 0.600 5 2011 2018
dbSNP: rs12930861
rs12930861
1 1.000 0.040 16 10492245 upstream gene variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1142
rs1142
6 0.851 0.040 7 105115879 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs267607017
rs267607017
4 0.851 0.080 8 10623069 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs11184959
rs11184959
1 1.000 0.040 1 106671354 intergenic variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs189132250
rs189132250
BBX
1 1.000 0.040 3 107773050 synonymous variant A/G snv 2.8E-04 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs2337395
rs2337395
UNG
1 1.000 0.040 12 109096844 upstream gene variant T/C snv 0.55 0.020 1.000 2 2012 2014
dbSNP: rs56209061
rs56209061
1 1.000 0.040 12 109467880 intron variant G/A snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs4698775
rs4698775
1 1.000 0.040 4 109669323 intron variant G/A;T snv 0.810 1.000 2 2013 2019
dbSNP: rs2285714
rs2285714
3 0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 0.810 0.500 2 2010 2019
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.840 0.875 8 2010 2019
dbSNP: rs1435946585
rs1435946585
CFI
1 1.000 0.040 4 109761597 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1486838526
rs1486838526
CFI
1 1.000 0.040 4 109764627 missense variant A/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs141853578
rs141853578
CFI
6 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 0.750 1.000 6 2013 2019
dbSNP: rs61941274
rs61941274
5 0.827 0.160 12 111694806 intron variant G/A;T snv 0.710 1.000 2 2016 2019