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: rs540296842
rs540296842
PAX1
1 1.000 20 21706648 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.800 1.000 1 2013 2013
dbSNP: rs1555804780
rs1555804780
PAX1
1 1.000 20 21709329 frameshift variant -/GCCCG delins 0.700 0