BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Triple Negative Breast Neoplasms ×
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: rs1064793309
rs1064793309 		0.925 0.080 17 43063889 missense variant C/T snv
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4986850
rs4986850 		0.851 0.080 17 43093454 missense variant C/A;T snv 5.8E-02
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs772885662
rs772885662 		0.925 0.080 17 43063911 synonymous variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs799917
rs799917 		0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80356898
rs80356898 		0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs80357367
rs80357367 		0.851 0.200 17 43057090 stop gained G/A snv
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs8176318
rs8176318 		0.807 0.120 17 43045257 3 prime UTR variant C/A snv 0.34 0.29
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014