CDKN1A, cyclin dependent kinase inhibitor 1A, 1026

N. diseases: 490; N. variants: 17
Disease: Retinoblastoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.030 1.000 3 2013 2018
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2013 2013