rs75462234, PAX2

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.
Allanson Pantzar McLeod syndrome
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
23 0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.700 1.000 1 2017 2017
Papillorenal syndrome
CUI: C1852759
Disease: Papillorenal syndrome
11 0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.700 1.000 1 2017 2017
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.700 0
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
CUI: C4014925
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
6 0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.700 0