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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 0.889 9 2005 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2013 2013
dbSNP: rs140241283
rs140241283
3 0.882 0.120 1 11796249 start lost A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1476413
rs1476413
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2012 2012