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: rs138929605
rs138929605
POLG
3 0.882 0.080 15 89330106 missense variant T/A;C;G snv 3.8E-04; 2.0E-05 0.700 1.000 10 2008 2017
dbSNP: rs201889294
rs201889294
FBXL4
3 0.925 6 98899282 stop gained G/A;T snv 4.0E-05 0.700 1.000 3 2013 2016
dbSNP: rs281865494
rs281865494
TK2
3 0.882 16 66529027 missense variant G/A snv 2.8E-05 7.7E-05 0.700 1.000 2 2006 2015
dbSNP: rs757075712
rs757075712
TFAM
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs121918046
rs121918046
POLG
4 0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs137854431
rs137854431
TK2
3 0.925 16 66531432 missense variant G/A snv 4.4E-05 1.3E-04 0.010 1.000 1 2003 2003
dbSNP: rs886037843
rs886037843
POLG2 ; MILR1
3 0.882 0.040 17 64496425 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018