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: rs1553763618
rs1553763618
POLR3GL
4 0.925 0.040 1 145977482 splice acceptor variant G/A snv 0.700 0
dbSNP: rs782661984
rs782661984
POLR3GL
4 0.925 0.040 1 145974824 splice acceptor variant G/A snv 2.3E-05 1.4E-05 0.700 0
dbSNP: rs1159208891
rs1159208891
GALNT3
2 0.925 0.080 2 165757126 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2008 2008