rs121912489, LAMB2

N. diseases: 2
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.
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
10 0.925 0.240 3 49126449 stop gained G/C snv 0.700 0
Pierson syndrome
CUI: C1836876
Disease: Pierson syndrome
13 0.925 0.240 3 49126449 stop gained G/C snv 0.700 0