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: rs1553136984
rs1553136984
1 1 45340218 splice donor variant C/T snv 0.700 1.000 2 2006 2007
dbSNP: rs767402084
rs767402084
1 1 45340219 stop gained C/G;T snv 4.0E-06 0.700 0