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: rs141542003
rs141542003
TMEM126B
2 0.925 11 85636171 missense variant G/T snv 1.1E-03 1.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs142609245
rs142609245
NDUFB3
3 0.882 0.040 2 201078946 missense variant T/C snv 8.5E-04 1.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs1801316
rs1801316
NDUFA1 ; RNF113A
1 1.000 X 119872005 missense variant G/A;C;T snv 5.5E-06; 5.7E-03 0.010 1.000 1 2009 2009
dbSNP: rs387907199
rs387907199
NDUFS1
3 0.882 0.040 2 206127898 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011