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: rs886037869
rs886037869
IFT52
2 0.925 0.080 20 43613959 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2016 2016