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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.850 0.667 6 2006 2017
dbSNP: rs7537605
rs7537605
3 0.882 0.120 1 107800465 intron variant G/A;T snv 0.710 1.000 1 2015 2015
dbSNP: rs11571297
rs11571297
3 0.882 0.120 2 203880280 regulatory region variant T/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs12507813
rs12507813
1 1.000 0.040 4 165013422 upstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12551356
rs12551356
1 1.000 0.040 9 74698280 intergenic variant G/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs13093110
rs13093110
LPP
4 0.882 0.120 3 188407332 intron variant C/T snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs1534422
rs1534422
6 0.827 0.160 2 12500615 intron variant G/A snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs2056252
rs2056252
2 1.000 0.040 4 165026338 non coding transcript exon variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2270450
rs2270450
5 0.827 0.200 6 46677138 3 prime UTR variant C/T snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs4409785
rs4409785
12 0.752 0.240 11 95578258 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs57348955
rs57348955
3 0.882 0.120 16 31174561 upstream gene variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6972286
rs6972286
2 1.000 0.040 7 118685680 intergenic variant A/T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs706779
rs706779
5 0.827 0.160 10 6056861 intron variant T/C snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs7085433
rs7085433
4 1.000 0.040 10 46002468 intron variant C/T snv 9.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs72928038
rs72928038
19 0.695 0.360 6 90267049 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs756763
rs756763
2 1.000 0.040 17 51671952 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs977706
rs977706
2 1.000 0.040 17 13456118 intergenic variant A/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1085308054
rs1085308054
7 0.827 0.160 10 87952231 frameshift variant AT/- delins 0.700 0
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 12 2008 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 12 2008 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.090 1.000 9 2001 2019
dbSNP: rs12976445
rs12976445
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.020 1.000 2 2014 2017
dbSNP: rs28665122
rs28665122
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.020 1.000 2 2014 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2014 2020
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 0.500 2 2014 2020