Gene: POLG ×
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: rs113994095
rs113994095
POLG ; MIR6766
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 44 2001 2018
dbSNP: rs121918054
rs121918054
POLG
8 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 1.000 9 2006 2015
dbSNP: rs368435864
rs368435864
POLG
2 1.000 0.080 15 89318736 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.700 1.000 9 2006 2013
dbSNP: rs113994096
rs113994096
POLG
8 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 1.000 7 2003 2013
dbSNP: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.700 1.000 6 2007 2019
dbSNP: rs201477273
rs201477273
POLG
5 0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04 0.700 1.000 4 2007 2013
dbSNP: rs113994094
rs113994094
POLG
6 0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03 0.700 1.000 3 2011 2015
dbSNP: rs113994098
rs113994098
POLG
12 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 2 2002 2011
dbSNP: rs778573169
rs778573169
POLG
2 1.000 0.080 15 89319225 splice region variant T/A;C snv 4.0E-05 0.700 1.000 2 2011 2013
dbSNP: rs1057517891
rs1057517891
POLG
1 15 89333346 stop gained G/A snv 0.700 0
dbSNP: rs886041276
rs886041276
POLG
1 15 89319275 frameshift variant CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/- delins 0.700 0