NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
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: rs61754966
rs61754966
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.060 0.833 6 2008 2015
dbSNP: rs1805794
rs1805794
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.050 0.600 5 2005 2019
dbSNP: rs34767364
rs34767364
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2004 2014
dbSNP: rs2735383
rs2735383
0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2015 2016
dbSNP: rs104895033
rs104895033
0.925 0.080 8 89955478 missense variant G/A;C;T snv 4.0E-06; 6.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1061302
rs1061302
0.827 0.160 8 89946194 synonymous variant T/C snv 0.35 0.30
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs13312840
rs13312840
0.882 0.120 8 89985681 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1377580273
rs1377580273
0.882 0.120 8 89947888 missense variant T/C snv 4.6E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs709816
rs709816
0.752 0.320 8 89955483 synonymous variant A/G snv 0.47 0.51
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs746965070
rs746965070
0.827 0.200 8 89955487 missense variant T/C snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs769416
rs769416
0.925 0.080 8 89971229 missense variant G/T snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010