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: rs140948465
rs140948465
2 0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs587778809
rs587778809
2 0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05 0.700 0