PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Disease: Amaurosis congenita of Leber, type 1 ×
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: rs1300041533
rs1300041533 		1.000 0.040 4 15992281 frameshift variant AT/- delins 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.700 0
dbSNP: rs747512450
rs747512450 		1.000 0.040 4 16075768 frameshift variant G/- delins 2.8E-05
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.700 0