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: rs6994908
rs6994908
TUSC3
2 1.000 0.200 8 15674943 intron variant T/C snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs6530893
rs6530893
TUSC3
2 1.000 0.200 8 15671068 intron variant T/C snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs6511901
rs6511901
CC2D1A
2 1.000 0.200 19 13916839 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
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
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: rs61748421
rs61748421
MECP2
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
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: rs61748392
rs61748392
MECP2
3 0.925 0.200 X 154031418 missense variant T/C snv 0.010 1.000 1 2001 2001
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: rs587776690
rs587776690
ATR
4 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017
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: 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: rs45517305
rs45517305
TSC2
5 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs398123561
rs398123561
TCF4
2 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs397515486
rs397515486
HCFC1
2 0.925 0.200 X 153964702 missense variant G/A snv 0.700 0
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 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: 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: rs372949028
rs372949028
TANGO2
13 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.030 1.000 3 2002 2005
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: rs267608402
rs267608402
MECP2
2 1.000 0.200 X 154030650 missense variant G/A snv 0.010 1.000 1 2009 2009
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: rs255012
rs255012 		2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004