PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
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: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 0
dbSNP: rs769240800
rs769240800 		0.925 0.120 16 23638116 stop gained A/C snv 8.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs180177132
rs180177132 		0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C1332262
Disease: Anal canal squamous cell carcinoma
Anal canal squamous cell carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs75023630
rs75023630 		1.000 0.080 16 23635054 missense variant C/A;T snv 4.8E-04
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs62625284
rs62625284 		1.000 0.080 16 23603592 missense variant A/G;T snv 1.7E-04; 8.0E-06
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs869312772
rs869312772 		0.925 0.080 16 23635383 frameshift variant G/-;GG delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C1332549
Disease: Bilateral Carcinoma
Bilateral Carcinoma 		Neoplasms 0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C0677861
Disease: Bilateral Malignant Neoplasm
Bilateral Malignant Neoplasm 		Neoplasms 0.700 0
dbSNP: rs420259
rs420259 		0.925 0.040 16 23622705 intron variant A/C;G snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.810 1.000 3 2007 2011
dbSNP: rs152451
rs152451 		1.000 0.080 16 23634870 missense variant T/A;C snv 0.10
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs45551636
rs45551636 		1.000 0.080 16 23622972 missense variant C/G;T snv 1.6E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs118203998
rs118203998 		0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs118203999
rs118203999 		0.925 0.200 16 23623003 stop gained G/A snv
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177097
rs180177097 		0.882 0.080 16 23635519 stop gained G/A snv
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177102
rs180177102 		1.000 0.080 16 23634954 frameshift variant AA/-;A delins 1.8E-04 1.3E-04
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177111
rs180177111 		0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177132
rs180177132 		0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177133
rs180177133 		0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs587781840
rs587781840 		16 23623001 frameshift variant T/- delins
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177132
rs180177132 		0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 5 2010 2016
dbSNP: rs515726123
rs515726123 		0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 4 2010 2018
dbSNP: rs16940342
rs16940342 		0.925 0.080 16 23633265 intron variant A/C;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2018
dbSNP: rs180177111
rs180177111 		0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2013