CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
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: rs28909982
rs28909982
0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs587782480
rs587782480
22 28699888 missense variant T/C snv 4.0E-06
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs786202601
rs786202601
1.000 0.120 22 28694059 frameshift variant T/- delins
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2006 2006