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: rs796053290
rs796053290
SLC9A6
2 0.925 0.280 X 135998095 splice region variant TTTTA/- delins 0.700 0
dbSNP: rs878853146
rs878853146
IL1RAPL1
1 1.000 0.200 X 29917576 frameshift variant TTGGGAAAGT/- delins 0.700 0
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
6 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
dbSNP: rs878853152
rs878853152
CUL4B
1 1.000 0.200 X 120547154 frameshift variant TG/- delins 0.700 0
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2008 2008
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: rs10410239
rs10410239
CC2D1A
2 1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 0.010 1.000 1 2012 2012
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: 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: rs587776690
rs587776690
ATR
4 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs61748392
rs61748392
MECP2
3 0.925 0.200 X 154031418 missense variant T/C snv 0.010 1.000 1 2001 2001
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: 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: rs122455132
rs122455132
SLC16A2
2 0.925 0.200 X 74529232 missense variant T/C snv 0.700 0
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: rs255012
rs255012 		2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs121918523
rs121918523
PHF8
3 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs878853142
rs878853142
RAI1
1 1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 0.700 0
dbSNP: rs869025287
rs869025287
MED13L
2 0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 0.700 0
dbSNP: rs723744
rs723744
TTR
3 0.925 0.200 18 31592513 intron variant G/T snv 0.38 0.010 1.000 1 2006 2006
dbSNP: rs121434614
rs121434614
PAK3
3 0.925 0.200 X 111196570 missense variant G/C snv 0.010 1.000 1 2007 2007
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: 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: rs122468181
rs122468181
UPF3B
3 0.925 0.200 X 119837771 stop gained G/A;T snv 0.010 1.000 1 2013 2013