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: rs118204456
rs118204456
7 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0
dbSNP: rs751093906
rs751093906
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1187636039
rs1187636039
5 0.925 0.120 3 89341043 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs147080557
rs147080557
6 0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs9323624
rs9323624
2 1.000 0.080 14 76033960 intron variant T/C snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs9833094
rs9833094
2 1.000 0.080 3 100872081 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12746200
rs12746200
6 0.851 0.160 1 186880054 intron variant A/G snv 7.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs1805034
rs1805034
12 0.742 0.360 18 62360008 missense variant C/T snv 0.54 0.56 0.010 1.000 1 2015 2015
dbSNP: rs2228246
rs2228246
2 0.925 0.120 20 41163423 missense variant A/G snv 0.14 0.14 0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs35211496
rs35211496
5 0.851 0.200 18 62354528 missense variant C/T snv 0.12 0.12 0.010 1.000 1 2015 2015