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: rs1463326176
rs1463326176
CRYGD ; LOC100507443
4 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.010 1.000 1 2013 2013
dbSNP: rs150857132
rs150857132
CRYGD ; LOC100507443
4 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs28931605
rs28931605
CRYGD ; LOC100507443
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2013 2013