Source: CLINVAR

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: rs1057519825
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2014 2014
dbSNP: rs1057519826
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2014 2014
dbSNP: rs1555114766
rs1555114766
11 108317486 stop gained G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0
dbSNP: rs28904921
rs28904921
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0
dbSNP: rs1057519915
rs1057519915
0.851 0.160 1 11109318 missense variant A/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519916
rs1057519916
0.882 0.160 1 11109320 missense variant T/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519913
rs1057519913
0.925 0.120 1 11157172 missense variant G/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs786205165
rs786205165
0.882 0.120 1 11157173 missense variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519854
rs1057519854
0.882 0.080 10 121488063 missense variant A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs121913476
rs121913476
0.851 0.080 10 121498520 missense variant A/C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519045
rs1057519045
0.851 0.160 10 121498522 missense variant T/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519901
rs1057519901
0.925 0.080 10 121498525 missense variant T/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519943
rs1057519943
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519944
rs1057519944
0.882 0.160 12 132676599 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs121913348
rs121913348
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 3 2002 2014
dbSNP: rs1057519827
rs1057519827
6 152011697 missense variant G/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 3 2013 2014
dbSNP: rs1057519714
rs1057519714
6 152094402 missense variant T/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2013 2013
dbSNP: rs1057519715
rs1057519715
1.000 0.080 6 152098779 missense variant T/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2013 2013
dbSNP: rs1057519716
rs1057519716
6 152098782 missense variant C/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2013 2013
dbSNP: rs1057519717
rs1057519717
6 152098785 missense variant T/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 2 2013 2013
dbSNP: rs866987936
rs866987936
0.752 0.240 4 152326214 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs747241612
rs747241612
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519895
rs1057519895
0.724 0.240 4 152328232 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs867384286
rs867384286
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016