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: rs759103701
rs759103701
MYCN
4 0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
4 0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 0.700 0
dbSNP: rs104893648
rs104893648
MYCN
4 0.882 0.320 2 15945883 missense variant G/A;T snv 0.700 0
dbSNP: rs118203998
rs118203998
PALB2
11 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 0
dbSNP: rs180177100
rs180177100
PALB2
6 0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs28897756
rs28897756
BRCA2
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 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: rs80358814
rs80358814
BRCA2
12 0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 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: rs1374262828
rs1374262828
FANCA
1 1.000 0.160 16 89758685 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2018 2018