rs1564494285, RET

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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
52 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
Intestinal hemorrhage NOS
CUI: C0267373
Disease: Intestinal hemorrhage NOS
3 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
Iron deficiency anemia
CUI: C0162316
Disease: Iron deficiency anemia
21 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
Megacolon
CUI: C0025160
Disease: Megacolon
9 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0