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: rs778533826
rs778533826
RPGRIP1L
1 1.000 0.280 16 53619112 stop gained G/A;C snv 1.6E-05 0.700 1.000 1 2015 2015