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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.733 15 2006 2020
dbSNP: rs2883187
rs2883187
1 1.000 0.040 11 27719545 5 prime UTR variant G/A snv 0.40 0.020 1.000 2 2014 2020
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: 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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2020 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.714 14 2006 2019
dbSNP: rs301430
rs301430
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.060 1.000 6 2007 2019
dbSNP: rs301443
rs301443
1 1.000 0.040 9 4594919 intron variant C/G snv 0.72 0.050 0.800 5 2010 2019
dbSNP: rs301434
rs301434
2 0.925 0.040 9 4582082 intron variant C/G;T snv 0.040 1.000 4 2006 2019
dbSNP: rs2228622
rs2228622
1 1.000 0.040 9 4564432 synonymous variant G/A snv 0.39 0.35 0.030 1.000 3 2007 2019
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: rs9653711
rs9653711
4 0.851 0.120 21 33029641 intron variant G/A;C snv 0.030 1.000 3 2007 2019
dbSNP: rs3780412
rs3780412
1 1.000 0.040 9 4572480 intron variant T/C;G snv 0.020 1.000 2 2007 2019
dbSNP: rs10042486
rs10042486
4 0.882 0.040 5 63965502 intron variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs12536521
rs12536521
1 1.000 0.040 7 89349373 intergenic variant T/A snv 4.8E-02 0.700 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: rs1755715
rs1755715
1 1.000 0.040 14 59440374 intron variant A/T snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs1800042
rs1800042
2 1.000 0.040 5 63960902 missense variant C/A;T snv 8.0E-06; 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs1838733
rs1838733
1 1.000 0.040 5 59237566 intron variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs2000292
rs2000292
1 1.000 0.040 6 77457228 downstream gene variant G/A snv 0.31 0.010 1.000 1 2019 2019
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: rs3780413
rs3780413
1 1.000 0.040 9 4567353 intron variant C/G snv 0.57 0.010 1.000 1 2019 2019
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: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.060 0.833 6 2007 2018