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: rs121908188
rs121908188
2 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.810 1.000 1 2002 2013
dbSNP: rs121964852
rs121964852
2 0.851 0.080 1 154172971 missense variant C/T snv 0.810 1.000 1 2008 2014
dbSNP: rs121964853
rs121964853
1 0.925 0.080 1 154176194 missense variant G/C;T snv 0.810 1.000 1 2008 2015
dbSNP: rs121964854
rs121964854
1 0.882 0.080 1 154172972 missense variant G/A;C snv 0.810 1.000 1 2002 2017
dbSNP: rs199474713
rs199474713
1 1.000 0.080 1 154176220 missense variant C/G snv 0.810 1.000 1 2008 2018
dbSNP: rs144983062
rs144983062
2 1.000 0.080 12 55693209 missense variant C/T snv 4.3E-03 3.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs397516248
rs397516248
2 0.851 0.200 14 23415153 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs886041268
rs886041268
1 1.000 0.080 7 5529381 missense variant C/T snv 0.010 1.000 1 2019 2019