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: rs104894674
rs104894674
DLL3
1 1.000 0.080 19 39507099 missense variant G/A snv 0.800 1.000 1 2000 2000
dbSNP: rs786200899
rs786200899
DLL3
2 0.925 0.080 19 39502998 frameshift variant -/GCGGT delins 0.700 1.000 2 2000 2004
dbSNP: rs104894024
rs104894024
LFNG ; MIR4648
2 0.925 0.120 7 2525301 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs104894675
rs104894675
DLL3
1 1.000 0.080 19 39504130 stop gained C/T snv 3.2E-05 1.4E-05 0.700 0
dbSNP: rs104894676
rs104894676
DLL3
1 1.000 0.080 19 39507456 missense variant G/A snv 2.0E-05 0.700 0
dbSNP: rs113994156
rs113994156
MESP2
1 1.000 0.080 15 89776628 missense variant A/G snv 0.700 0
dbSNP: rs113994157
rs113994157
MESP2
1 1.000 0.080 15 89776742 missense variant A/G;T snv 5.8E-06 0.700 0
dbSNP: rs113994158
rs113994158
MESP2
2 0.925 0.120 15 89776853 frameshift variant -/ACCG delins 0.700 0
dbSNP: rs113994160
rs113994160
HES7
2 0.925 0.080 17 8123096 missense variant G/A snv 0.700 0
dbSNP: rs1447189148
rs1447189148
DLL3
1 1.000 0.080 19 39502939 stop gained C/A;G snv 1.6E-05 0.700 0
dbSNP: rs777791545
rs777791545
DLL3
1 1.000 0.080 19 39507230 frameshift variant GACCCGTGCGCCGCGCG/-;GACCCGTGCGCCGCGCGGACCCGTGCGCCGCGCG delins 0.700 0
dbSNP: rs786200900
rs786200900
DLL3
1 1.000 0.080 19 39505303 frameshift variant AT/- del 2.0E-05 4.2E-05 0.700 0
dbSNP: rs786200903
rs786200903
DLL3
1 1.000 0.080 19 39507385 frameshift variant G/- del 0.700 0
dbSNP: rs71647808
rs71647808
MESP2
3 0.925 0.120 15 89776664 stop gained G/A;C;T snv 1.0E-04; 2.7E-05; 4.1E-05 0.010 1.000 1 2008 2008