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: rs10274701
rs10274701
2 0.925 0.080 7 148855364 intron variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs1219648
rs1219648
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12662670
rs12662670
4 0.851 0.080 6 151597721 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1412125
rs1412125
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1436904
rs1436904
4 0.851 0.080 18 26990703 intron variant T/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1651654
rs1651654
2 0.925 0.080 16 46822677 intron variant T/C snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs2278256
rs2278256
2 0.925 0.080 19 17267350 intron variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs2288349
rs2288349
5 0.882 0.120 19 10146569 intron variant G/A snv 0.36 0.35 0.010 1.000 1 2015 2015
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs40239
rs40239
MET
4 0.851 0.120 7 116677823 intron variant G/A snv 0.87 0.010 < 0.001 1 2019 2019
dbSNP: rs4784227
rs4784227
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs527616
rs527616
4 0.851 0.080 18 26757460 intron variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs635538
rs635538
2 0.925 0.080 18 55606383 intron variant G/A snv 0.94 0.010 1.000 1 2018 2018
dbSNP: rs7250266
rs7250266
2 0.925 0.080 19 17266803 intron variant C/G snv 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs80350973
rs80350973
2 0.925 0.080 2 52252219 intron variant A/T snv 2.1E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs9485372
rs9485372
6 0.807 0.120 6 149287738 intron variant G/A snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs999737
rs999737
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs4849887
rs4849887
7 0.807 0.080 2 120487546 intergenic variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs718282
rs718282
2 0.925 0.080 7 152638744 intergenic variant A/G snv 0.94 0.010 1.000 1 2015 2015
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
dbSNP: rs144567652
rs144567652
8 0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs3212986
rs3212986
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.010 1.000 1 2018 2018
dbSNP: rs397507758
rs397507758
6 0.807 0.200 13 32339456 stop gained C/T snv 0.010 1.000 1 2014 2014