rs569681869, COL4A4

N. diseases: 6
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 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 1.000 3 2007 2016
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
Hematuria
CUI: C0018965
Disease: Hematuria
31 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
Proteinuria
CUI: C0033687
Disease: Proteinuria
20 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0