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: rs112321280
rs112321280
DOCK8
1 1.000 9 336714 missense variant A/G snv 0.800 0
dbSNP: rs1564025732
rs1564025732
DOCK8
1 1.000 9 407070 splice donor variant G/A snv 0.700 1.000 2 2004 2009
dbSNP: rs749633690
rs749633690
DOCK8
1 1.000 9 368016 splice acceptor variant A/G snv 8.0E-06 0.700 1.000 2 2004 2009
dbSNP: rs776399238
rs776399238
DOCK8
1 1.000 9 386329 splice acceptor variant A/C snv 4.0E-06 0.700 1.000 2 2004 2009
dbSNP: rs113944762
rs113944762
DOCK8
1 1.000 9 407033 frameshift variant C/- del 7.0E-06 0.700 0
dbSNP: rs1554668061
rs1554668061
DOCK8
1 1.000 9 325722 frameshift variant -/A delins 0.700 0
dbSNP: rs775544616
rs775544616
DOCK8
1 1.000 9 441905 stop gained C/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs869312169
rs869312169
DOCK8
3 0.925 0.080 9 452067 frameshift variant -/T delins 0.700 0
dbSNP: rs886037645
rs886037645
DOCK8
1 1.000 9 407040 frameshift variant -/TGGCTGCT delins 0.700 0