Gene: CHEK2 ×
Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17879961
rs17879961
CHEK2
15 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.900 0.895 2 2003 2017
dbSNP: rs137853007
rs137853007
CHEK2
8 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587780174
rs587780174
CHEK2
7 0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 0.700 0
dbSNP: rs587782471
rs587782471
CHEK2
4 0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06 0.700 0
dbSNP: rs864622149
rs864622149
CHEK2
5 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0