rs121912863, COL4A4

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.
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
143 1.000 2 227008112 missense variant G/A snv 1.6E-04 1.8E-04 0.700 1.000 2 1994 1998
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 1.000 2 227008112 missense variant G/A snv 1.6E-04 1.8E-04 0.010 1.000 1 2014 2014