BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
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: rs41293463
rs41293463 		0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs80357382
rs80357382 		0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs56187033
rs56187033 		0.851 0.200 17 43099786 missense variant T/C snv 2.6E-04 2.9E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1799949
rs1799949 		17 43093449 synonymous variant G/A snv 0.35 0.31
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1799949
rs1799949 		17 43093449 synonymous variant G/A snv 0.35 0.31
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs8176071
rs8176071 		17 43125988 intron variant -/GTT delins 0.31
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2018 2018
dbSNP: rs80357090
rs80357090 		0.882 0.200 17 43097266 missense variant C/T snv 3.0E-04 2.2E-04
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2227945
rs2227945 		1.000 0.080 17 43092113 missense variant T/C;G snv 2.5E-03 1.0E-02
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1064794662
rs1064794662 		0.925 0.080 17 43049129 frameshift variant G/- delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80357287
rs80357287 		0.882 0.200 17 43124096 start lost T/C snv
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs879255477
rs879255477 		1.000 0.080 17 43106526 start lost T/C snv
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80357138
rs80357138 		0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs397508986
rs397508986 		0.807 0.280 17 43092919 frameshift variant G/AA delins
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs799917
rs799917 		0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs8176166
rs8176166 		17 43088260 intron variant T/C snv 0.14
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1799950
rs1799950 		0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs80357796
rs80357796 		0.752 0.240 17 43094464 frameshift variant T/- del
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs886039958
rs886039958 		0.882 0.080 17 43093956 frameshift variant A/-;AA delins
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2007
dbSNP: rs1060915
rs1060915 		1.000 0.080 17 43082453 synonymous variant A/G snv 0.35 0.30
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12516
rs12516 		0.851 0.160 17 43044391 3 prime UTR variant G/A snv 0.34 0.31
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16940
rs16940 		0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs397509062
rs397509062 		1.000 0.080 17 43104223 missense variant A/G snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs398122697
rs398122697 		0.925 0.080 17 43049170 missense variant A/G snv 4.0E-06
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs530464947
rs530464947 		1.000 0.080 17 43092137 missense variant T/C snv 1.6E-05 4.2E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs747364414
rs747364414 		0.882 0.080 17 43082496 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2004 2004