Source: ALL
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: rs528302390
rs528302390
PKD1L1
9 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016