Source: ALL
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: rs121909593
rs121909593
C9
1 1.000 0.080 5 39341267 missense variant A/C snv 3.2E-04 1.3E-04 0.800 1.000 1 1998 1998
dbSNP: rs34000044
rs34000044
C9
1 1.000 0.080 5 39342112 stop gained G/A;T snv 6.4E-05; 8.9E-04 0.700 1.000 1 2017 2017
dbSNP: rs778518669
rs778518669
C9
1 1.000 0.080 5 39331714 frameshift variant A/- del 4.0E-06 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs121909592
rs121909592
C9
1 1.000 0.080 5 39341276 stop gained G/A;T snv 8.7E-04; 8.0E-06 0.700 0
dbSNP: rs121909594
rs121909594
C9
1 1.000 0.080 5 39306753 stop gained G/C snv 3.6E-05 3.5E-05 0.700 0