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: rs104893809
rs104893809
3 0.882 0.120 3 30691504 missense variant C/T snv 0.700 0
dbSNP: rs727503475
rs727503475
3 0.882 0.120 3 30688512 splice donor variant G/A;T snv 0.700 0
dbSNP: rs863223852
rs863223852
4 0.882 0.120 3 30688476 stop gained C/A;T snv 4.0E-06 0.700 0