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: rs587776573
rs587776573
WT1
1 1.000 0.160 11 32417633 frameshift variant TTTGGTATAAATTGTCA/- delins 0.700 0
dbSNP: rs587776574
rs587776574
WT1
1 1.000 0.160 11 32399967 frameshift variant C/- delins 0.700 0
dbSNP: rs778634417
rs778634417
TTN ; TTN-AS1
1 1.000 0.160 2 178633467 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs80358391
rs80358391
BRCA2
10 0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs80358427
rs80358427
BRCA2
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs80358435
rs80358435
BRCA2
11 0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358557
rs80358557
BRCA2
10 0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358721
rs80358721
BRCA2
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.700 0
dbSNP: rs80358785
rs80358785
BRCA2
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0
dbSNP: rs80358807
rs80358807
BRCA2
10 0.763 0.280 13 32340146 stop gained C/T snv 0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
12 0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 0.700 0
dbSNP: rs80358893
rs80358893
BRCA2
10 0.763 0.320 13 32341011 stop gained C/G snv 0.700 0
dbSNP: rs80358920
rs80358920
BRCA2
14 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
dbSNP: rs80358972
rs80358972
BRCA2
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 0
dbSNP: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.700 0
dbSNP: rs80359031
rs80359031
BRCA2
10 0.763 0.320 13 32363190 missense variant A/T snv 0.700 0
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: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
dbSNP: rs1027643
rs1027643
LOC105379082
1 1.000 0.160 5 92558085 intron variant C/T snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs2283873
rs2283873
TCN2
1 1.000 0.160 22 30617309 intron variant G/A snv 8.8E-02 0.12 0.800 1.000 1 2012 2012
dbSNP: rs2495478
rs2495478
PCSK9
1 1.000 0.160 1 55047322 non coding transcript exon variant G/A snv 0.13 0.800 1.000 1 2012 2012
dbSNP: rs3755132
rs3755132 		1 1.000 0.160 2 15589696 upstream gene variant T/G snv 0.26 0.800 1.000 1 2012 2012
dbSNP: rs5955543
rs5955543
NHS
1 1.000 0.160 X 17680277 intron variant A/G snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs790356
rs790356
DLG2
1 1.000 0.160 11 83909744 intron variant A/G snv 0.50 0.800 1.000 1 2012 2012