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: rs765676223
rs765676223
CRB2
2 0.925 0.200 9 123371542 missense variant C/A;G;T snv 1.6E-05; 2.3E-04 0.800 1.000 1 2015 2015
dbSNP: rs730880300
rs730880300
CRB2
1 1.000 0.120 9 123371070 missense variant A/C snv 1.0E-04 3.5E-05 0.800 0
dbSNP: rs730880377
rs730880377
CRB2
1 1.000 0.120 9 123370950 missense variant C/G;T snv 4.1E-06; 4.1E-06 0.800 0
dbSNP: rs375072557
rs375072557
CRB2
2 0.925 0.200 9 123371419 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0