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: rs879255250
rs879255250
CRB2
1 1.000 9 123370912 missense variant G/A;C snv 0.800 1.000 1 2015 2015
dbSNP: rs879255252
rs879255252
CRB2
1 1.000 9 123370939 missense variant G/C snv 0.800 1.000 1 2015 2015
dbSNP: rs202128397
rs202128397
CRB2
3 0.882 0.080 9 123370935 missense variant C/T snv 1.2E-05 0.800 0
dbSNP: rs147412276
rs147412276
CRB2
1 1.000 9 123376950 missense variant G/A;C snv 1.4E-03 0.700 0
dbSNP: rs879255251
rs879255251
CRB2
2 0.925 0.080 9 123373609 frameshift variant GGCCCGGCGCGGCCCC/-;GGCCCGGCGCGGCCCCGGCCCGGCGCGGCCCC delins 0.700 0