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: rs121918284
rs121918284
BEST1 ; LOC107984334
0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 1.000 7 2008 2016
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.810 1.000 19 1998 2012
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 1.000 1 2011 2011
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		0.010 1.000 1 2012 2012