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: rs1554919471
rs1554919471
4 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1554920808
rs1554920808
3 1.000 0.120 11 2776991 missense variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs199473442
rs199473442
3 1.000 0.120 11 2445103 missense variant C/G;T snv 0.700 0
dbSNP: rs199472730
rs199472730
5 0.882 0.120 11 2572895 missense variant C/G;T snv 0.020 1.000 2 2011 2018
dbSNP: rs120074179
rs120074179
3 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs120074193
rs120074193
7 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs143149582
rs143149582
1 11 2588801 missense variant C/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs199472718
rs199472718
2 1.000 0.120 11 2572102 missense variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs199472756
rs199472756
3 0.925 0.120 11 2583486 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs199472823
rs199472823
5 0.851 0.240 11 2571328 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs199473401
rs199473401
4 0.925 0.120 11 2570722 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs199473470
rs199473470
2 1.000 0.120 11 2583472 missense variant C/A snv 0.010 1.000 1 2010 2010