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: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2011 2011
dbSNP: rs165656
rs165656
COMT
5 0.925 0.200 22 19961340 intron variant G/A;C;T snv 0.010 1.000 1 2007 2007
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: rs199516560
rs199516560
ABCB1
5 0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs225010
rs225010
DIO2
2 1.000 0.200 14 80205936 intron variant C/T snv 0.51 0.010 1.000 1 2004 2004
dbSNP: rs225012
rs225012
DIO2
2 1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 0.010 1.000 1 2004 2004
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: rs2276382
rs2276382
TTR
2 1.000 0.200 18 31598648 synonymous variant G/A snv 3.4E-03 1.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs255012
rs255012 		2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs267608383
rs267608383
MECP2
2 1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06 0.010 1.000 1 2009 2009
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
dbSNP: rs3740066
rs3740066
ABCC2
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2008 2008
dbSNP: rs3758653
rs3758653
DRD4
2 1.000 0.200 11 636399 upstream gene variant T/C snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs45517305
rs45517305
TSC2
5 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs4846049
rs4846049
MTHFR ; C1orf167
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs5030849
rs5030849
PAH
6 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.010 1.000 1 1991 1991
dbSNP: rs587776690
rs587776690
ATR
4 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs587777696
rs587777696
SLC1A1 ; SPATA6L
3 0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs61748392
rs61748392
MECP2
3 0.925 0.200 X 154031418 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs61748420
rs61748420
MECP2
5 0.851 0.200 X 154031329 missense variant G/A;T snv 0.010 1.000 1 2001 2001
dbSNP: rs61749735
rs61749735
MECP2
3 0.925 0.200 X 154031162 synonymous variant G/A;C snv 5.4E-06; 3.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs61753016
rs61753016
MECP2
2 1.000 0.200 X 154030614 missense variant G/A snv 6.8E-05 3.9E-05 0.010 1.000 1 2009 2009