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: rs267606680
rs267606680
BEST1 ; LOC107984334
0.925 0.080 11 61956976 missense variant T/C snv
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.800 1.000 1 2012 2012
dbSNP: rs267606680
rs267606680
BEST1 ; LOC107984334
0.925 0.080 11 61956976 missense variant T/C snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2016 2016