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: rs575266356
rs575266356
1 1.000 0.120 2 43823926 missense variant G/A;C snv 1.3E-04; 1.6E-05 0.710 1.000 4 2001 2004
dbSNP: rs119480069
rs119480069
1 1.000 0.120 2 43824071 missense variant C/T snv 1.5E-04 8.4E-05 0.710 1.000 1 2010 2010
dbSNP: rs199689137
rs199689137
1 1.000 0.120 2 43822924 stop gained G/A;C;T snv 1.8E-04; 8.0E-06; 4.0E-06 0.700 1.000 13 2007 2018
dbSNP: rs119479067
rs119479067
1 1.000 0.120 2 43823981 missense variant C/G;T snv 2.4E-05 0.700 0
dbSNP: rs758551848
rs758551848
1 1.000 0.120 2 43831834 stop gained C/A;G snv 0.700 0
dbSNP: rs869025350
rs869025350
1 1.000 0.120 2 43824359 frameshift variant T/- delins 0.700 0
dbSNP: rs1014715108
rs1014715108
1 1.000 0.120 2 43824350 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010