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: rs61469168
rs61469168
C6 ; LOC105374739
1 1.000 0.080 5 41158763 frameshift variant C/- del 8.4E-04 3.2E-03 0.700 1.000 5 1996 2012
dbSNP: rs146187042
rs146187042
C8B
2 0.925 0.080 1 56956889 stop gained G/A snv 1.2E-04 2.2E-04 0.700 1.000 3 1995 2009
dbSNP: rs41286844
rs41286844
C8B
2 0.925 0.080 1 56940965 stop gained G/A;C;T snv 1.1E-03; 4.0E-06; 4.0E-06 0.700 1.000 2 1993 1995
dbSNP: rs142881576
rs142881576
C6 ; LOC105374739
1 1.000 0.080 5 41159152 stop gained G/A snv 1.4E-04 1.3E-04 0.700 0
dbSNP: rs398122811
rs398122811
C6
1 1.000 0.080 5 41201621 frameshift variant G/- delins 0.700 0