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: rs786200884
rs786200884
DCLRE1C
2 0.925 0.120 10 14909131 frameshift variant TCTACAA/- delins 0.700 1.000 4 2003 2015
dbSNP: rs121908156
rs121908156
DCLRE1C
2 0.925 0.120 10 14945110 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 2 2001 2015
dbSNP: rs121908157
rs121908157
DCLRE1C
2 0.925 0.120 10 14934461 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1564414523
rs1564414523
DCLRE1C
1 1.000 0.120 10 14926842 splice donor variant C/G snv 0.700 0
dbSNP: rs1564418254
rs1564418254
DCLRE1C
1 1.000 0.120 10 14928015 splice donor variant C/T snv 0.700 0
dbSNP: rs1564446526
rs1564446526
DCLRE1C
1 1.000 0.120 10 14936537 splice donor variant C/A snv 0.700 0
dbSNP: rs786205074
rs786205074
DCLRE1C
1 1.000 0.120 10 14932853 splice donor variant C/- delins 0.700 0
dbSNP: rs886037924
rs886037924
DCLRE1C
1 1.000 0.120 10 14908817 frameshift variant -/T delins 0.700 0
dbSNP: rs886037925
rs886037925
DCLRE1C
1 1.000 0.120 10 14945157 missense variant G/A snv 0.700 0
dbSNP: rs587777685
rs587777685
PRKDC
3 0.882 0.120 8 47820870 missense variant A/C snv 0.010 1.000 1 2009 2009