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: rs2303428
rs2303428
9 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs551060742
rs551060742
7 0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04 0.010 1.000 1 2019 2019