BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Malignant 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: rs144848
rs144848 		0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.060 1.000 6 2002 2017
dbSNP: rs11571833
rs11571833 		0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 1.000 5 2015 2018
dbSNP: rs1799944
rs1799944 		0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 0.500 2 2008 2016
dbSNP: rs1057520247
rs1057520247 		0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1060502495
rs1060502495 		13 32332560 missense variant A/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs11571707
rs11571707 		0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2010 2010
dbSNP: rs1799943
rs1799943 		0.925 0.080 13 32316435 5 prime UTR variant G/A;C;T snv 0.25
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs28897743
rs28897743 		0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4987046
rs4987046 		0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs4987117
rs4987117 		0.925 0.080 13 32340099 missense variant C/T snv 1.8E-02 1.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs80358732
rs80358732 		0.925 0.080 13 32339451 missense variant A/G snv 2.2E-05 2.1E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs80359071
rs80359071 		0.882 0.200 13 32363445 missense variant G/A snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs80359194
rs80359194 		13 32394703 missense variant G/A snv 4.0E-06 2.8E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs863224464
rs863224464 		0.925 0.200 13 32316461 start lost A/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs886040456
rs886040456 		0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008