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: rs121918369
rs121918369
CYGB ; PRCD
1 1.000 0.080 17 76540146 missense variant G/A snv 0.800 1.000 3 2006 2016
dbSNP: rs387907268
rs387907268
CYGB ; PRCD
2 0.925 0.080 17 76540205 stop gained C/G;T snv 4.4E-06; 2.6E-05 0.700 0
dbSNP: rs767439982
rs767439982
CYGB ; PRCD
1 1.000 0.080 17 76540518 missense variant G/A snv 4.0E-05 1.4E-05 0.700 0