Source: CLINVAR ×
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 CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
56 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
28 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
53 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0