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: rs1085307885
rs1085307885
NF1
2 0.925 0.120 17 31338808 splice region variant A/G snv 0.700 0
dbSNP: rs397509400
rs397509400
ERCC4
2 0.925 16 13935414 splice donor variant CTCAA/- delins 0.700 0
dbSNP: rs776155094
rs776155094
WT1 ; WT1-AS
1 1.000 11 32435210 frameshift variant C/- del 7.6E-06 2.8E-05 0.700 0
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1372169495
rs1372169495
PRDM1 ; ATG5
1 1.000 6 106086585 missense variant G/A;C snv 6.3E-06; 6.3E-06 0.010 1.000 1 2014 2014