Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587780174
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2011 2016
dbSNP: rs587780174
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 5 2011 2016
dbSNP: rs587780174
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2011 2014
dbSNP: rs587780174
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 0
dbSNP: rs587780174
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs587780174
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		0.700 0
dbSNP: rs587780174
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		0.700 0