rs137853294, RB1

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.
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.800 1.000 26 1989 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 1.000 8 1992 2017
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 0
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 0
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
125 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 0
Vulvar Adenocarcinoma of Mammary Gland Type
CUI: C4288013
Disease: Vulvar Adenocarcinoma of Mammary Gland Type
2 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 0