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: rs1321554653
rs1321554653
SRR
1 1.000 0.080 17 2317980 frameshift variant -/G delins 0.010 1.000 1 2012 2012
dbSNP: rs62635048
rs62635048
1 1.000 0.080 1 197328828 frameshift variant -/G delins 0.010 1.000 1 2010 2010
dbSNP: rs60242496
rs60242496
1 1.000 0.080 9 27572636 intron variant -/GGAAAGTGCAGGACCTCCCTCCTG delins 0.700 1.000 1 2013 2013
dbSNP: rs34424835
rs34424835
GRN
1 1.000 0.080 17 44350176 intron variant -/GTCA delins 0.32 0.010 1.000 1 2008 2008
dbSNP: rs1356352068
rs1356352068
1 1.000 0.080 16 1792196 frameshift variant -/T ins 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs12608932
rs12608932
5 0.827 0.080 19 17641880 intron variant A/C snv 0.36 0.880 0.923 13 2009 2019
dbSNP: rs387907264
rs387907264
5 0.851 0.080 17 4946742 missense variant A/C snv 0.050 1.000 5 2015 2019
dbSNP: rs7477
rs7477
1 1.000 0.080 17 16342702 3 prime UTR variant A/C snv 0.38 0.810 1.000 2 2013 2014
dbSNP: rs1361121
rs1361121
1 1.000 0.080 6 49956357 downstream gene variant A/C snv 6.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs7019351
rs7019351
1 1.000 0.080 9 27491264 intron variant A/C snv 0.67 0.700 1.000 1 2015 2015
dbSNP: rs774351
rs774351
1 1.000 0.080 9 27516642 intron variant A/C snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs855913
rs855913
1 1.000 0.080 7 149506571 intergenic variant A/C snv 0.96 0.800 1.000 1 2009 2009
dbSNP: rs752114312
rs752114312
1 1.000 0.080 16 2760410 missense variant A/C;G snv 8.0E-06; 8.4E-05 0.020 1.000 2 2016 2016
dbSNP: rs146528738
rs146528738
1 1.000 0.080 14 20699599 missense variant A/C;G snv 1.0E-03; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs770237371
rs770237371
5 0.827 0.160 17 81996616 missense variant A/C;G snv 4.0E-06; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs779126582
rs779126582
1 1.000 0.080 1 32033254 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2009 2015
dbSNP: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.100 1.000 30 1995 2020
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.100 0.917 12 1994 2017
dbSNP: rs267606929
rs267606929
5 0.827 0.120 10 13132098 missense variant A/G snv 0.070 1.000 7 2011 2018
dbSNP: rs80356730
rs80356730
7 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.060 1.000 6 2013 2019
dbSNP: rs1209222698
rs1209222698
1 1.000 0.080 7 101916177 synonymous variant A/G snv 8.0E-06 0.050 1.000 5 2004 2015
dbSNP: rs746076530
rs746076530
1 1.000 0.080 17 34256238 synonymous variant A/G snv 1.6E-05 7.0E-06 0.040 1.000 4 2011 2014
dbSNP: rs774994509
rs774994509
5 0.851 0.080 21 31667296 missense variant A/G snv 4.0E-06 0.030 1.000 3 2010 2011
dbSNP: rs1032968973
rs1032968973
1 1.000 0.080 1 156842164 synonymous variant A/G snv 4.0E-06 1.4E-05 0.020 1.000 2 2016 2017