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: rs1210348558
rs1210348558
PKHD1
1 1.000 0.120 6 51934238 missense variant A/G snv 4.0E-06 0.700 1.000 10 2002 2015