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: 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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 2 2010 2013
dbSNP: rs4808075
rs4808075 		0.701 0.280 19 17279482 intron variant T/C snv 0.26
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		Neoplasms 0.700 1.000 2 2016 2017
dbSNP: rs4808075
rs4808075 		0.701 0.280 19 17279482 intron variant T/C snv 0.26
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2016 2017
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: 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: 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: 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: 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: 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: rs10420922
rs10420922 		1.000 0.080 19 17271696 intron variant A/T snv 0.42 0.50
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: rs10424178
rs10424178 		1.000 0.080 19 17268749 splice region variant C/T snv 0.17 0.23
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: rs10426697
rs10426697 		1.000 0.080 19 17278347 intron variant C/T snv 0.19
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: rs11291512
rs11291512 		1.000 0.080 19 17274572 intron variant AA/-;A;AAA delins 0.43
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: rs11667618
rs11667618 		1.000 0.080 19 17279669 intron variant C/T snv 0.33
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: rs11667661
rs11667661 		1.000 0.080 19 17279770 intron variant C/T snv 0.33
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: rs12104352
rs12104352 		1.000 0.080 19 17266139 intron variant G/T snv 0.35
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: rs12980812
rs12980812 		1.000 0.080 19 17266749 intron variant C/G;T snv 0.23
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: 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: 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: rs3745185
rs3745185 		1.000 0.080 19 17273458 intron variant G/A snv 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010