rs1323833193, EGF

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.
ATRIOVENTRICULAR CANAL DEFECT
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
14 0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
19 0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018