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: rs387906631
rs387906631
5 0.923 0.071 3 128481901 missense variant G/A snp 0.820 1.000 6 2010 2012
dbSNP: rs371769427
rs371769427
12 0.734 0.250 21 43104346 stop gained G/A,T snp 8.0E-06 0.820 1.000 5 2012 2017
dbSNP: rs371246226
rs371246226
6 0.878 0.071 21 43094667 missense variant T/C,G snp 2.4E-05; 2.4E-05 0.810 1.000 4 2012 2015
dbSNP: rs121913499
rs121913499
34 0.630 0.464 2 208248389 missense variant G/A,C,T snp 0.710 1.000 2 2012 2016
dbSNP: rs121913502
rs121913502
15 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.710 1.000 2 2012 2016
dbSNP: rs193303018
rs193303018
1 MT 3242 non coding transcript exon variant snp 0.700 2 2004 2010
dbSNP: rs752746786
rs752746786
27 0.769 0.357 1 1806503 missense variant A/C,G,T snp 4.0E-06 0.700 2 2015 2017
dbSNP: rs104894229
rs104894229
31 0.634 0.500 11 534289 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs1057519960
rs1057519960
7 0.821 0.250 11 66063413 missense variant A/G snp 0.700 1 2016 2016
dbSNP: rs11540652
rs11540652
40 0.618 0.464 17 7674220 missense variant C/A,G,T snp 1.2E-05 0.700 1 2016 2016
dbSNP: rs121434595
rs121434595
19 0.692 0.357 1 114716124 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs121434596
rs121434596
18 0.707 0.357 1 114716123 missense variant C/A,G,T snp 4.0E-06; 4.0E-06 0.700 1 2016 2016
dbSNP: rs121912651
rs121912651
41 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 1 2016 2016
dbSNP: rs121913250
rs121913250
14 0.724 0.286 1 114716127 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs121913500
rs121913500
42 0.615 0.464 2 208248388 missense variant C/A,G,T snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs121913503
rs121913503
17 0.724 0.179 15 90088606 missense variant C/A,T snp 0.700 1 2012 2012
dbSNP: rs147001633
rs147001633
6 0.846 0.143 2 25234373 missense variant C/A,G,T snp 4.0E-06; 4.0E-06; 2.2E-04 0.700 1 2016 2016
dbSNP: rs267606870
rs267606870
9 0.784 0.250 15 90088703 missense variant G/A,C snp 0.700 1 2016 2016
dbSNP: rs377023736
rs377023736
2 1.000 0.036 2 197402635 missense variant C/A,G snp 2.4E-05; 4.0E-05 0.700 1 2011 2011
dbSNP: rs377577594
rs377577594
4 0.878 0.107 2 25234374 missense variant G/A,C,T snp 1.2E-04; 8.0E-06 0.700 1 2016 2016
dbSNP: rs267607040
rs267607040
6 0.846 0.286 18 44951948 missense variant G/A snp 0.700 0
dbSNP: rs267607042
rs267607042
6 0.821 0.286 18 44951942 missense variant G/A,C snp 0.700 0
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.090 0.889 9 2005 2013