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: rs185894411
rs185894411
1 1.000 0.120 3 152300288 missense variant C/T snv 3.2E-05 1.4E-05 0.700 0
dbSNP: rs762280354
rs762280354
1 1.000 0.120 19 45777542 stop gained G/A;C snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
10 0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs1205829960
rs1205829960
2 0.925 0.160 2 203872753 missense variant C/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1425492535
rs1425492535
1 1.000 0.120 8 23225061 start lost T/C snv 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs199472823
rs199472823
5 0.851 0.240 11 2571328 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs2292239
rs2292239
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2492358
rs2492358
5 0.851 0.160 9 34737831 intron variant C/T snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs2853676
rs2853676
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2019 2019
dbSNP: rs951005
rs951005
10 0.807 0.200 9 34743684 intron variant G/A snv 0.78 0.010 1.000 1 2015 2015