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: rs1553317025
rs1553317025
1 1.000 0.080 2 32128430 missense variant C/G;T snv 0.800 1.000 26 1999 2016
dbSNP: rs878854990
rs878854990
1 1.000 0.080 2 32136933 missense variant C/A;T snv 0.800 1.000 26 1999 2014
dbSNP: rs121908518
rs121908518
1 1.000 0.080 2 32145004 stop gained C/G;T snv 0.800 1.000 25 1999 2016
dbSNP: rs864622162
rs864622162
1 1.000 0.080 2 32141917 missense variant C/T snv 4.0E-06 0.800 1.000 24 1999 2016
dbSNP: rs864622179
rs864622179
1 1.000 0.080 2 32144996 missense variant G/A snv 0.800 1.000 24 1999 2014
dbSNP: rs121908509
rs121908509
1 1.000 0.080 2 32116199 missense variant C/G snv 0.800 1.000 20 1999 2014
dbSNP: rs121908512
rs121908512
1 1.000 0.080 2 32136877 missense variant A/G;T snv 0.800 1.000 20 1999 2014
dbSNP: rs121908516
rs121908516
1 1.000 0.080 2 32136964 missense variant A/C;T snv 0.800 1.000 20 1999 2014
dbSNP: rs144594804
rs144594804
1 1.000 0.080 2 32154380 missense variant A/C snv 3.8E-04 3.1E-04 0.700 1.000 20 1999 2014
dbSNP: rs1553318238
rs1553318238
1 1.000 0.080 2 32136930 missense variant A/G snv 0.800 1.000 20 1999 2014
dbSNP: rs372005558
rs372005558
1 1.000 0.080 2 32064120 missense variant C/A;T snv 5.9E-04; 5.0E-06 0.700 1.000 20 1999 2014
dbSNP: rs773193617
rs773193617
1 1.000 0.080 2 32115709 missense variant C/T snv 4.4E-05 2.1E-05 0.700 1.000 20 1999 2014
dbSNP: rs863224923
rs863224923
1 1.000 0.080 2 32145005 missense variant G/A snv 7.0E-06 0.800 1.000 20 1999 2014
dbSNP: rs878854992
rs878854992
1 1.000 0.080 2 32144995 missense variant G/A;C snv 4.0E-06 0.800 1.000 20 1999 2014
dbSNP: rs1558339948
rs1558339948
1 1.000 0.080 2 32141941 splice donor variant AGG/- delins 0.700 1.000 5 1991 2017
dbSNP: rs1558337180
rs1558337180
1 1.000 0.080 2 32137187 splice donor variant TAGG/- delins 0.700 1.000 4 2000 2017
dbSNP: rs786204057
rs786204057
1 1.000 0.080 2 32144957 missense variant G/A snv 0.700 1.000 4 1998 2016
dbSNP: rs1064793976
rs1064793976
1 1.000 0.080 2 32154373 splice acceptor variant G/A;C snv 0.700 1.000 3 2002 2006
dbSNP: rs1218081251
rs1218081251
1 1.000 0.080 2 32141902 splice acceptor variant A/C;G snv 0.700 1.000 3 2001 2010
dbSNP: rs1553316799
rs1553316799
1 1.000 0.080 2 32126952 missense variant T/C snv 0.700 1.000 3 2006 2017
dbSNP: rs1553319526
rs1553319526
1 1.000 0.080 2 32144936 splice acceptor variant G/A;T snv 0.700 1.000 3 2002 2012
dbSNP: rs1553316838
rs1553316838
1 1.000 0.080 2 32127013 missense variant G/T snv 0.700 1.000 2 2000 2011
dbSNP: rs1553319075
rs1553319075
1 1.000 0.080 2 32141904 missense variant G/C snv 0.700 1.000 2 2006 2010
dbSNP: rs1553399493
rs1553399493
1 1.000 0.080 2 32087520 stop gained G/A snv 0.700 1.000 2 2012 2015
dbSNP: rs1558341948
rs1558341948
1 1.000 0.080 2 32144986 missense variant G/A;C snv 0.700 1.000 2 2000 2009