Source: ALL

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: rs1064793951
rs1064793951
BRCA1
1.000 17 43076560 frameshift variant C/- delins 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064793967
rs1064793967
BRCA1
1.000 17 43094635 frameshift variant ACATTC/GA delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064794004
rs1064794004
BRCA1
1.000 17 43074480 stop gained TACC/CTCATCTAATGATGGGCA delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064794016
rs1064794016
BRCA1
1.000 17 43092005 frameshift variant C/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064794177
rs1064794177
BRCA1
1.000 17 43092390 frameshift variant ACTT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064794467
rs1064794467
BRCA1
1.000 17 43057113 frameshift variant TC/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064794662
rs1064794662
BRCA1
0.925 0.080 17 43049129 frameshift variant G/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064794864
rs1064794864
BRCA1
1.000 17 43092824 frameshift variant A/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064795446
rs1064795446
BRCA1
1.000 17 43093064 frameshift variant T/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064795600
rs1064795600
BRCA1
1.000 17 43092748 frameshift variant C/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064795769
rs1064795769
BRCA1
1.000 17 43092771 frameshift variant T/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064795775
rs1064795775
BRCA1
1.000 17 43094254 frameshift variant G/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064795840
rs1064795840
BRCA1
1.000 17 43093346 frameshift variant C/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1064797381
rs1064797381
BRCA1
1.000 17 43093799 frameshift variant -/T delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1085307902
rs1085307902
BRCA1
1.000 17 43104187 stop gained G/A snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1085308034
rs1085308034
BRCA1
1.000 17 43093004 frameshift variant T/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1135401829
rs1135401829
BRCA1
0.925 0.200 17 43063897 frameshift variant C/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1135401836
rs1135401836
BRCA1
0.925 0.200 17 43104177 frameshift variant C/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1135401837
rs1135401837
BRCA1
0.925 0.200 17 43094827 frameshift variant TTGTT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1135401838
rs1135401838
BRCA1
0.925 0.200 17 43094647 frameshift variant TCTTT/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1135401839
rs1135401839
BRCA1
0.925 0.200 17 43094598 frameshift variant A/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1135401841
rs1135401841
BRCA1
0.925 0.200 17 43094396 frameshift variant TGCT/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1135401845
rs1135401845
BRCA1
0.925 0.200 17 43094139 frameshift variant -/C ins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1135401846
rs1135401846
BRCA1
0.925 0.200 17 43093885 frameshift variant GTAATATTC/T delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1135401848
rs1135401848
BRCA1
0.925 0.200 17 43093751 frameshift variant T/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0