Source: UNIPROT

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: rs137853006
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy 		0.800 1.000 1 2008 2008
dbSNP: rs137853006
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.800 1.000 1 2008 2008
dbSNP: rs137853006
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.800 1.000 1 2008 2008