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: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs201943194
rs201943194
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2008 2010
dbSNP: rs1058240
rs1058240
2 0.925 0.160 10 8074635 3 prime UTR variant G/A snv 0.81 0.010 1.000 1 2008 2008
dbSNP: rs12122228
rs12122228
2 0.925 0.160 1 60890848 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1345191484
rs1345191484
2 0.925 0.160 18 75286334 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs1805015
rs1805015
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2018 2018
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2018 2018
dbSNP: rs2073440
rs2073440
HDC
4 0.851 0.200 15 50242317 missense variant T/G snv 3.4E-02 5.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs2229542
rs2229542
3 0.925 0.160 7 134450869 missense variant T/C snv 1.3E-02 1.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs320995
rs320995
4 0.851 0.240 X 78272820 missense variant G/A;C;T snv 0.73 0.010 1.000 1 2006 2006
dbSNP: rs324011
rs324011
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs379568
rs379568
2 0.925 0.160 10 8083856 intergenic variant G/A snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs4143094
rs4143094
12 0.752 0.240 10 8047173 intron variant T/G snv 0.70 0.010 1.000 1 2008 2008
dbSNP: rs4795405
rs4795405
6 0.851 0.160 17 39932164 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs750444386
rs750444386
6 0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs8113232
rs8113232
3 0.925 0.160 19 3586545 synonymous variant G/A snv 4.0E-06; 0.14 0.24 0.010 1.000 1 2012 2012