PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853006
rs137853006
0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
Eye Diseases 0.720 1.000 3 2010 2019
dbSNP: rs1033920857
rs1033920857
0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs146434364
rs146434364
0.882 0.040 4 15980426 missense variant C/T snv 7.5E-05 9.8E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
Eye Diseases 0.010 1.000 1 2017 2017