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: rs12076373
rs12076373
2 1.000 0.040 1 243688645 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs34988193
rs34988193
2 1.000 0.040 15 64943580 missense variant A/G snv 0.31 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1131239
rs1131239
1 1.000 0.040 4 121696590 5 prime UTR variant G/A;C;T snv 0.12 0.17 0.010 1.000 1 2019 2019
dbSNP: rs117677079
rs117677079
3 0.882 0.040 4 121673909 intron variant T/C snv 8.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs145619195
rs145619195
1 1.000 0.040 4 121674585 intron variant T/C snv 9.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs2306415
rs2306415
1 1.000 0.040 4 121696476 intron variant C/G snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs2306420
rs2306420
1 1.000 0.040 4 121670320 intron variant G/A snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs41278075
rs41278075
1 1.000 0.040 4 121669758 intron variant G/A snv 0.23 0.18 0.010 1.000 1 2019 2019
dbSNP: rs3092993
rs3092993
5 0.827 0.040 11 108364388 intron variant C/A snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs2279115
rs2279115
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs762541432
rs762541432
1 1.000 0.040 11 27657901 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 19 2011 2020
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 18 2011 2020
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs7572263
rs7572263
2 1.000 0.040 2 208186862 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2008 2016
dbSNP: rs1052576
rs1052576
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs4295627
rs4295627
11 0.763 0.200 8 129673211 intron variant T/G snv 0.17 0.900 1.000 12 2009 2020
dbSNP: rs55705857
rs55705857
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.760 1.000 9 2013 2019
dbSNP: rs6470745
rs6470745
3 0.882 0.040 8 129629675 intron variant A/G snv 0.18 0.720 1.000 4 2009 2019
dbSNP: rs891835
rs891835
5 0.851 0.120 8 129479506 intron variant T/G snv 0.17 0.810 1.000 3 2009 2019
dbSNP: rs10464870
rs10464870
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.700 1.000 2 2009 2011
dbSNP: rs16904140
rs16904140
1 1.000 0.040 8 129653397 intron variant G/A snv 0.19 0.700 1.000 2 2009 2011
dbSNP: rs12544799
rs12544799
1 1.000 0.040 8 129651264 intron variant A/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs4636162
rs4636162
1 1.000 0.040 8 129627294 non coding transcript exon variant G/A snv 0.30 0.700 1.000 1 2011 2011