Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs483353122
rs483353122
0.851 0.200 13 32363410 frameshift variant -/AG ins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs1114167628
rs1114167628
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 0.833 42 2003 2018
dbSNP: rs886040340
rs886040340
0.882 0.080 13 32319111 frameshift variant -/C delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs28360317
rs28360317
0.716 0.280 5 83323739 intron variant -/CCT delins 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2012 2012
dbSNP: rs11283943
rs11283943
MCC
0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs80357906
rs80357906
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2019 2019
dbSNP: rs3215684
rs3215684
0.925 0.080 20 50578329 intron variant -/T;TC ins 0.62
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs70991108
rs70991108
0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2012 2012
dbSNP: rs1414323823
rs1414323823
0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 1.000 2 2011 2015
dbSNP: rs113211432
rs113211432
0.882 0.080 2 214767532 frameshift variant -/TG delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 1.000 2 2003 2006
dbSNP: rs3783553
rs3783553
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2016 2016
dbSNP: rs28381975
rs28381975
0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs5780218
rs5780218
0.882 0.080 1 204196482 5 prime UTR variant A/- delins 0.44
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs886039958
rs886039958
0.882 0.080 17 43093956 frameshift variant A/-;AA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2007 2007
dbSNP: rs144848
rs144848
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 0.923 13 2000 2017
dbSNP: rs4646
rs4646
0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.090 1.000 9 2008 2015
dbSNP: rs3734805
rs3734805
0.925 0.080 6 151618215 3 prime UTR variant A/C snv 6.9E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.730 1.000 3 2011 2016
dbSNP: rs981782
rs981782
0.851 0.080 5 45285616 intron variant A/C snv 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 1.000 3 2012 2016
dbSNP: rs1204382931
rs1204382931
0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 1.000 2 2015 2018
dbSNP: rs1482057
rs1482057
0.925 0.080 15 60772552 intron variant A/C snv 0.80
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 1.000 2 2014 2019
dbSNP: rs17001868
rs17001868
0.925 0.080 22 40382227 intron variant A/C snv 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 1.000 2 2015 2017
dbSNP: rs61764370
rs61764370
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 0.500 2 2012 2016
dbSNP: rs10043985
rs10043985
0.925 0.080 5 111065770 upstream gene variant A/C snv 5.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs11085735
rs11085735
0.925 0.080 19 10491504 intron variant A/C snv 0.92
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2015 2015