rs180177132, PALB2

N. diseases: 8
Source: CLINVAR ×
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.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
802 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.730 1.000 9 2010 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
37 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.730 1.000 3 2010 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 1.000 18 2007 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 1.000 6 2010 2016
Anal canal squamous cell carcinoma
CUI: C1332262
Disease: Anal canal squamous cell carcinoma
1 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 0
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
24 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 0
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
72 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 0
melanoma
CUI: C0025202
Disease: melanoma
129 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 0