TULP1, TUB like protein 1, 7287

N. diseases: 80; N. variants: 20
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: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1237263305
rs1237263305 		0.925 0.080 6 35505772 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.010 1.000 1 2015 2015