Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853138
rs137853138
CRB1
1.000 0.080 1 197328835 missense variant G/A snv 1.3E-03 1.1E-03
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.810 1.000 0 2005 2005
dbSNP: rs62645748
rs62645748
CRB1
0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.700 0