BABAM1, BRISC and BRCA1 A complex member 1, 29086

N. diseases: 27; N. variants: 32
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: rs10419397
rs10419397 		1.000 0.080 19 17280519 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs35552009
rs35552009 		1.000 0.080 19 17275299 intron variant T/-;TT;TTT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs35604430
rs35604430 		1.000 0.080 19 17272181 intron variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs398034105
rs398034105 		1.000 0.080 19 17274572 intron variant AA/-;A;AAA delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs62126227
rs62126227 		1.000 0.080 19 17272793 intron variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs73014418
rs73014418 		1.000 0.080 19 17277205 non coding transcript exon variant T/C snv 2.5E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs7250266
rs7250266 		0.925 0.080 19 17266803 intron variant C/G snv 8.5E-02
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7250266
rs7250266 		0.925 0.080 19 17266803 intron variant C/G snv 8.5E-02
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: rs35256297
rs35256297 		1.000 0.080 19 17266140 intron variant TT/-;T;TTT;TTTT delins 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs61634114
rs61634114 		1.000 0.080 19 17276445 non coding transcript exon variant G/A snv 0.15 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs10402468
rs10402468 		1.000 0.080 19 17273194 intron variant C/A snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs34084277
rs34084277 		1.000 0.080 19 17276367 intron variant A/G snv 0.14 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs56028644
rs56028644 		1.000 0.080 19 17277981 intron variant C/T snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs10416654
rs10416654 		1.000 0.080 19 17274367 intron variant T/C snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs67412075
rs67412075 		1.000 0.080 19 17274693 intron variant A/G snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs10406920
rs10406920 		1.000 0.080 19 17278839 splice region variant C/T snv 0.15 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs10418154
rs10418154 		1.000 0.080 19 17275197 intron variant A/G snv 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs3837926
rs3837926 		1.000 0.080 19 17274571 splice region variant T/A snv 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs10418362
rs10418362 		1.000 0.080 19 17275298 intron variant A/T snv 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs8170
rs8170 		0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.850 0.875 8 2010 2016
dbSNP: rs8170
rs8170 		0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.750 0.833 6 2010 2014
dbSNP: rs8170
rs8170 		0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.720 1.000 3 2010 2016
dbSNP: rs8170
rs8170 		0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2012
dbSNP: rs8170
rs8170 		0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 2 2010 2013
dbSNP: rs8170
rs8170 		0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2012