BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
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: rs397508838
rs397508838
0.925 17 43094416 stop gained C/T snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs397509205
rs397509205
0.882 0.080 17 43070984 stop gained C/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs62625307
rs62625307
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs62625308
rs62625308
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs80356952
rs80356952
0.790 0.200 17 43093901 stop gained G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs80357468
rs80357468
0.882 0.200 17 43094415 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs748876625
rs748876625
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 0.500 2 2003 2005
dbSNP: rs1060502346
rs1060502346
0.925 0.080 17 43106513 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs28897696
rs28897696
0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs397508906
rs397508906
17 43093787 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs431825412
rs431825412
17 43057124 missense variant T/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs786203319
rs786203319
0.827 0.160 17 43115759 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs80357091
rs80357091
1.000 0.160 17 43104910 missense variant A/C;G snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs80357107
rs80357107
1.000 17 43045757 missense variant A/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1057522527
rs1057522527
17 43076544 synonymous variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs80357610
rs80357610
0.851 0.160 17 43094550 frameshift variant GT/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs80357750
rs80357750
0.790 0.200 17 43115759 frameshift variant G/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs876659253
rs876659253
1.000 17 43094296 frameshift variant ACAT/TG delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs886039920
rs886039920
0.807 0.160 17 43115755 frameshift variant ACAGG/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017