Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359200
rs80359200
BRCA2
12 0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 0.700 0
dbSNP: rs80359212
rs80359212
BRCA2
11 0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs80359550
rs80359550
BRCA2
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 0
dbSNP: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
dbSNP: rs80359773
rs80359773
BRCA2
4 0.882 0.280 13 32398184 frameshift variant -/A delins 0.700 0
dbSNP: rs81002897
rs81002897
BRCA2
4 0.882 0.280 13 32326614 splice donor variant G/A;C snv 0.700 0
dbSNP: rs81002899
rs81002899
BRCA2
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 0
dbSNP: rs886038169
rs886038169
BRCA2
2 0.925 0.120 13 32356455 frameshift variant -/TA delins 0.700 0
dbSNP: rs28897743
rs28897743
BRCA2
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 6 2002 2013
dbSNP: rs80358979
rs80358979
BRCA2
2 1.000 0.120 13 32356521 missense variant T/C snv 0.800 1.000 1 2003 2003
dbSNP: rs1555286294
rs1555286294
BRCA2
2 1.000 0.120 13 32356571 frameshift variant G/- del 0.700 1.000 1 2018 2018
dbSNP: rs1566260827
rs1566260827
BRCA2
1 1.000 0.120 13 32398206 frameshift variant A/- del 0.700 1.000 1 2018 2018