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: rs61748436
rs61748436
CRX
4 0.851 0.080 19 47836264 missense variant G/A snv 1.4E-05 0.710 1.000 4 1997 2001
dbSNP: rs750727986
rs750727986
CRX
1 1.000 0.080 19 47839411 missense variant G/A;C snv 4.8E-05 0.700 1.000 3 1997 2001
dbSNP: rs1555801989
rs1555801989
CRX
1 1.000 0.080 19 47839514 frameshift variant TC/- delins 0.700 0
dbSNP: rs527236062
rs527236062
CRX
1 1.000 0.080 19 47836335 missense variant G/C snv 0.700 0
dbSNP: rs527236063
rs527236063
CRX
1 1.000 0.080 19 47839964 missense variant G/A;C snv 1.2E-05 0.700 0