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: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2016 2016
dbSNP: rs12682807
rs12682807
1 1.000 0.040 9 4574022 splice region variant A/C snv 0.11 8.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs11583978
rs11583978
2 0.925 0.040 1 34864921 downstream gene variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs4401971
rs4401971
1 1.000 0.040 9 11890045 intron variant A/C;G;T snv 0.800 1.000 1 2015 2015
dbSNP: rs762178
rs762178
2 0.925 0.040 21 33027093 synonymous variant A/G snv 0.51 0.53 0.030 1.000 3 2007 2019
dbSNP: rs11174202
rs11174202
2 0.925 0.040 12 61858476 intron variant A/G snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs1265692223
rs1265692223
1 1.000 0.040 3 184100530 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2004 2004
dbSNP: rs2364841
rs2364841
1 1.000 0.040 14 77817693 intron variant A/G snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs28696717
rs28696717
1 1.000 0.040 1 153493087 intergenic variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs3785817
rs3785817
GRN
1 1.000 0.040 17 44346297 intron variant A/G snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs56151798
rs56151798
1 1.000 0.040 11 18022863 synonymous variant A/G snv 6.0E-03 6.4E-03 0.010 1.000 1 1999 1999
dbSNP: rs6131293
rs6131293
1 1.000 0.040 20 12014779 intergenic variant A/G snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs8190748
rs8190748
1 1.000 0.040 10 26280826 intron variant A/G snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs12635725
rs12635725
1 1.000 0.040 3 1895465 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs297941
rs297941
1 1.000 0.040 12 49925303 non coding transcript exon variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs6662980
rs6662980
1 1.000 0.040 1 34894477 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1755715
rs1755715
1 1.000 0.040 14 59440374 intron variant A/T snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2013 2013
dbSNP: rs6109227
rs6109227
1 1.000 0.040 20 12018497 intergenic variant A/T snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.020 1.000 2 2007 2015
dbSNP: rs1000592
rs1000592
1 1.000 0.040 2 118939624 upstream gene variant C/A snv 6.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs3747767
rs3747767
2 1.000 0.040 6 79547564 intergenic variant C/A snv 8.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs12504244
rs12504244
2 0.925 0.040 4 54619021 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018