BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Mammary 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: rs1057518635
rs1057518635 		1.000 13 32340367 frameshift variant ATAG/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518637
rs1057518637 		1.000 13 32336621 stop gained C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518638
rs1057518638 		1.000 13 32339317 stop gained T/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1131692035
rs1131692035 		1.000 13 32332335 stop gained C/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555280073
rs1555280073 		13 32316454 start lost TAAAAATGCCTATTGG/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555281594
rs1555281594 		1.000 13 32332276 frameshift variant -/G delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555282830
rs1555282830 		1.000 13 32337109 frameshift variant C/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555283169
rs1555283169 		1.000 13 32337677 stop gained A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397507396
rs397507396 		0.925 0.200 13 32363405 frameshift variant CC/-;C;CCC delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397507644
rs397507644 		1.000 13 32337198 frameshift variant T/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397507649
rs397507649 		1.000 13 32337345 stop gained T/A;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397507967
rs397507967 		1.000 13 32363397 stop gained T/A;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs483353077
rs483353077 		1.000 13 32370470 frameshift variant TTT/AAAA;NNNN delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80358981
rs80358981 		0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80359222
rs80359222 		0.925 0.200 13 32394913 stop gained A/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80359550
rs80359550 		0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs864622401
rs864622401 		0.882 0.200 13 32339092 frameshift variant -/TG delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs878853559
rs878853559 		0.925 0.200 13 32336450 stop gained C/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs879255309
rs879255309 		0.925 0.200 13 32338238 stop gained C/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555284442
rs1555284442 		13 32340234 frameshift variant G/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs397507643
rs397507643 		1.000 13 32337181 frameshift variant TTAA/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs397507828
rs397507828 		1.000 13 32340440 stop gained G/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs483353111
rs483353111 		0.925 0.200 13 32336949 frameshift variant A/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs587782137
rs587782137 		13 32316471 missense variant G/A;C snv 2.4E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs276174819
rs276174819 		0.925 0.200 13 32336524 frameshift variant -/A delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016