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: rs1057518764
rs1057518764
DLX3
6 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1555617226
rs1555617226
DLX3
4 0.851 0.160 17 49993440 missense variant C/A snv 0.700 0
dbSNP: rs387906405
rs387906405
DLX3
1 1.000 0.160 17 49991807 frameshift variant CCCC/- del 0.700 0
dbSNP: rs387906406
rs387906406
DLX3
2 0.925 0.160 17 49991819 frameshift variant AG/- delins 0.700 0
dbSNP: rs779489353
rs779489353
DNMT3B
1 1.000 0.160 20 32788957 missense variant A/G snv 2.8E-05 0.010 1.000 1 2019 2019