rs562625029, CBS

N. diseases: 5
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.
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.827 0.280 21 43058192 stop gained G/A snv 0.010 1.000 1 2013 2013
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.827 0.280 21 43058192 stop gained G/A snv 0.010 1.000 1 2013 2013
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.827 0.280 21 43058192 stop gained G/A snv 0.010 1.000 1 2013 2013
Homocystinuria
CUI: C0019880
Disease: Homocystinuria
27 0.827 0.280 21 43058192 stop gained G/A snv 0.010 1.000 1 2009 2009
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.827 0.280 21 43058192 stop gained G/A snv 0.010 1.000 1 2012 2012