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: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
dbSNP: rs118203933
rs118203933
CA2
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs121434613
rs121434613
PAK3
4 0.882 0.240 X 111194402 missense variant C/A snv 0.010 1.000 1 2003 2003
dbSNP: rs121434614
rs121434614
PAK3
3 0.925 0.200 X 111196570 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121918364
rs121918364
SRPX2
5 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs121918524
rs121918524
PHF8
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs122460151
rs122460151
ARSL
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs1249144069
rs1249144069
PITRM1 ; PITRM1-AS1
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1278838206
rs1278838206
PCDH19
3 0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1282813621
rs1282813621
UPF3B
3 0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs1301785134
rs1301785134
ATR
3 0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs132630328
rs132630328
GK
3 0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 0.010 1.000 1 1996 1996
dbSNP: rs1335072648
rs1335072648
RAD21
2 1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1364926780
rs1364926780
ABCB1
5 0.882 0.200 7 87550272 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs140032597
rs140032597
UPF3B
3 0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs1404008939
rs1404008939
ABCB1
4 0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs141228574
rs141228574
COQ4
2 1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 0.010 1.000 1 2017 2017
dbSNP: rs1471281484
rs1471281484
WAPL
2 1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs185645212
rs185645212
POLG
6 0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs199469705
rs199469705
TECR
3 0.925 0.200 19 14564841 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs2273697
rs2273697
ABCC2
11 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 0.010 1.000 1 2008 2008
dbSNP: rs267608402
rs267608402
MECP2
2 1.000 0.200 X 154030650 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs28934904
rs28934904
MECP2
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005