rs777476179, ALMS1

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alstrom Syndrome
CUI: C0268425
Disease: Alstrom Syndrome
179 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 1.000 1 2015 2015
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0