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: rs777787526
rs777787526
1 1.000 0.120 17 56835096 stop gained A/G;T snv 8.0E-06 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs138924661
rs138924661
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs148605410
rs148605410
2 1.000 0.120 17 56834827 stop gained C/A;G snv 0.700 0
dbSNP: rs312262695
rs312262695
3 0.925 0.120 17 56847995 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs312262696
rs312262696
2 0.925 0.120 17 56848695 splice acceptor variant G/A snv 0.700 0
dbSNP: rs312262697
rs312262697
1 1.000 0.120 17 56848807 stop gained C/T snv 0.700 0
dbSNP: rs312262698
rs312262698
1 1.000 0.120 17 56844023 frameshift variant -/T delins 0.700 0
dbSNP: rs312262699
rs312262699
2 1.000 0.120 17 56844039 frameshift variant -/A delins 0.700 0