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.
NEPHRONOPHTHISIS 12
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
9 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.800 1.000 3 2011 2017
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.710 1.000 2 2011 2014
Hepatic Fibrosis, Congenital
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
2 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 1.000 2 2014 2017
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
116 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 1.000 2 2011 2014
Renal cyst
CUI: C3887499
Disease: Renal cyst
17 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 1.000 2 2014 2017
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
178 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 0
NEPHRONOPHTHISIS 2
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
7 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 0
Senior-Loken Syndrome 1
CUI: C4551559
Disease: Senior-Loken Syndrome 1
3 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 0
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
4 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 0
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.020 1.000 2 2014 2017
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.010 1.000 1 2017 2017
Nephritis, Interstitial
CUI: C0027707
Disease: Nephritis, Interstitial
5 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.010 1.000 1 2017 2017
Nephritis, Tubulointerstitial
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
6 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.010 1.000 1 2017 2017