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: rs10484554
rs10484554
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs1347671835
rs1347671835
5 0.827 0.160 16 88639888 missense variant C/A;G snv 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2012 2012
dbSNP: rs2395029
rs2395029
12 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs281875214
rs281875214
7 0.790 0.160 17 80183976 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs281875215
rs281875215
6 0.807 0.160 17 80182790 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.010 1.000 1 2008 2008
dbSNP: rs767455
rs767455
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.010 1.000 1 2012 2012