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: rs1060503092
rs1060503092
1 1.000 0.080 8 133264546 splice donor variant C/T snv 7.0E-06 0.700 1.000 2 2003 2013
dbSNP: rs119483085
rs119483085
5 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.700 0