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: rs387906769
rs387906769
7 0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 0.800 1.000 1 2007 2007
dbSNP: rs115372595
rs115372595
1 1.000 8 11756974 missense variant C/T snv 1.6E-03 1.4E-03 0.800 0
dbSNP: rs1405855570
rs1405855570
1 1.000 8 11748917 splice acceptor variant A/G snv 8.0E-06 0.700 1.000 2 2003 2004