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: rs137854601
rs137854601
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 1999 2011
dbSNP: rs199473073
rs199473073
1 1.000 0.120 3 38613757 missense variant A/G snv 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1553698563
rs1553698563
1 1.000 0.120 3 38575452 splice acceptor variant C/G snv 0.700 0
dbSNP: rs794728865
rs794728865
2 0.925 0.120 3 38585903 stop gained G/A snv 0.700 0