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: rs398124502
rs398124502
PKHD1
1 1.000 0.120 6 51747927 frameshift variant T/- del 7.2E-05 4.9E-05 0.700 1.000 5 2003 2014