Source: ALL

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: rs753614067
rs753614067
BEST1 ; LOC107984334
1.000 0.080 11 61955870 missense variant C/G snv 3.3E-05 1.4E-05
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.700 0
dbSNP: rs753614067
rs753614067
BEST1 ; LOC107984334
1.000 0.080 11 61955870 missense variant C/G snv 3.3E-05 1.4E-05
CUI: C1839025
Disease: Decreased light- and dark-adapted electroretinogram amplitude
Decreased light- and dark-adapted electroretinogram amplitude 		0.700 0
dbSNP: rs753614067
rs753614067
BEST1 ; LOC107984334
1.000 0.080 11 61955870 missense variant C/G snv 3.3E-05 1.4E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0