rs121912491, LAMB2

N. diseases: 4
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.
Pierson syndrome
CUI: C1836876
Disease: Pierson syndrome
13 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.700 1.000 2 2004 2006
Nephrosis, congenital
CUI: C3501848
Disease: Nephrosis, congenital
9 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.010 1.000 1 2011 2011
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
45 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.010 1.000 1 2011 2011
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
10 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.700 0