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: rs118204451
rs118204451
NHEJ1
1 1.000 0.240 2 219158194 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.800 0
dbSNP: rs118204452
rs118204452
NHEJ1
1 1.000 0.240 2 219157495 missense variant A/G snv 4.0E-06 0.800 0
dbSNP: rs118204453
rs118204453
NHEJ1
1 1.000 0.240 2 219146736 stop gained G/A;T snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs1553542017
rs1553542017
NHEJ1
1 1.000 0.240 2 219078152 stop gained G/A snv 0.700 0
dbSNP: rs886037606
rs886037606
NHEJ1
1 1.000 0.240 2 219158183 splice donor variant TAC/AA delins 0.700 0
dbSNP: rs886037607
rs886037607
NHEJ1
1 1.000 0.240 2 219158351 frameshift variant -/A delins 0.700 0