rs758937799, TBCE

N. diseases: 2
Source: CURATED ×
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.
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
CUI: C1855840
Disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
3 0.925 0.280 1 235401545 frameshift variant AG/- del 3.2E-05 0.700 1.000 1 2002 2002
KENNY-CAFFEY SYNDROME, TYPE 1
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
2 0.925 0.280 1 235401545 frameshift variant AG/- del 3.2E-05 0.700 1.000 1 2002 2002