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: rs121964952
rs121964952
1 1.000 0.040 4 186236819 stop gained G/A;T snv 4.0E-06 0.800 1.000 2 2003 2007
dbSNP: rs3733402
rs3733402
5 1.000 0.040 4 186236880 missense variant G/A;C snv 0.54 0.800 1.000 2 2003 2007
dbSNP: rs121964951
rs121964951
1 1.000 0.040 4 186257283 missense variant G/A snv 6.8E-04 5.2E-04 0.700 1.000 2 2003 2007
dbSNP: rs186254196
rs186254196
1 1.000 0.040 4 186252131 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs121964949
rs121964949
1 1.000 0.040 4 186236789 stop gained C/T snv 6.4E-05 4.2E-05 0.700 0
dbSNP: rs121964950
rs121964950
1 1.000 0.040 4 186252077 stop gained G/A snv 4.0E-06 0.700 0