Gene: CRB1 ×
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: rs398124615
rs398124615
CRB1
5 0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04 0.700 1.000 2 2006 2018
dbSNP: rs62636273
rs62636273
CRB1
3 0.882 0.080 1 197429460 stop gained T/A;C snv 3.2E-05 0.700 1.000 2 2004 2018
dbSNP: rs1201356843
rs1201356843
CRB1
1 1.000 0.040 1 197477799 missense variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1553260321
rs1553260321
CRB1
1 1.000 0.040 1 197421257 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs62635654
rs62635654
CRB1
4 0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs764256655
rs764256655
CRB1
2 0.925 0.080 1 197328935 missense variant G/T snv 1.2E-05 5.6E-05 0.700 1.000 1 2018 2018