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: rs121908565
rs121908565
POLH ; GTPBP2
1 1.000 0.160 6 43614181 missense variant A/C snv 2.4E-05 1.4E-05 0.800 1.000 6 1999 2014
dbSNP: rs56307355
rs56307355
POLH ; GTPBP2
1 1.000 0.160 6 43614018 missense variant A/C;G snv 8.0E-06; 8.7E-04 0.800 1.000 6 1999 2014
dbSNP: rs1413703153
rs1413703153
POLH
1 1.000 0.160 6 43603915 missense variant G/T snv 4.0E-06 0.700 1.000 6 1999 2014
dbSNP: rs199562456
rs199562456
POLH ; GTPBP2
1 1.000 0.160 6 43614489 missense variant A/G snv 1.6E-04 6.3E-05 0.700 1.000 6 1999 2014
dbSNP: rs756931657
rs756931657
POLH
1 1.000 0.160 6 43587277 missense variant G/A;C snv 4.0E-06 0.700 1.000 6 1999 2014
dbSNP: rs758423288
rs758423288
POLH
1 1.000 0.160 6 43587331 missense variant G/A snv 4.4E-05 6.3E-05 0.700 1.000 6 1999 2014
dbSNP: rs752080248
rs752080248
POLH
1 1.000 0.160 6 43583017 frameshift variant -/T delins 1.6E-05 0.700 1.000 2 2008 2016
dbSNP: rs767433001
rs767433001
POLH
1 1.000 0.160 6 43587489 stop gained G/T snv 2.4E-05 0.700 1.000 2 2007 2008
dbSNP: rs121908562
rs121908562
POLH
1 1.000 0.160 6 43604646 stop gained G/T snv 0.700 1.000 1 2008 2008
dbSNP: rs745778317
rs745778317
POLH
1 1.000 0.160 6 43601052 stop gained C/G snv 8.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs759607901
rs759607901
POLH
1 1.000 0.160 6 43604637 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs772570523
rs772570523
POLH
1 1.000 0.160 6 43601092 splice donor variant G/A snv 1.2E-05; 4.0E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs886039225
rs886039225
POLH ; GTPBP2
1 1.000 0.160 6 43614076 frameshift variant A/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1176350430
rs1176350430
POLH
1 1.000 0.160 6 43583076 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs121908563
rs121908563
POLH
1 1.000 0.160 6 43587375 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121908564
rs121908564
POLH ; GTPBP2
1 1.000 0.160 6 43610596 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1426687865
rs1426687865
POLH
1 1.000 0.160 6 43583091 inframe deletion TCT/- delins 8.0E-06 0.700 0