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: rs1293340864
rs1293340864
1 1.000 0.120 10 69011001 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017