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: 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: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs745756308
rs745756308
HNMT ; LOC107985948
2 1.000 2 138013874 missense variant T/C snv 4.0E-06 0.020 1.000 2 2015 2017
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: rs1171889657
rs1171889657
HADHB
1 2 26273656 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1287153074
rs1287153074
FOXP1
2 1.000 0.080 3 70977021 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1445362103
rs1445362103
ARHGEF7
2 1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2000 2000
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: rs151191437
rs151191437
LIMK2
1 22 31277081 missense variant T/C snv 1.1E-03 1.2E-03 0.010 1.000 1 2019 2019
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: rs74900327
rs74900327
SMN2
2 1.000 0.120 5 70049747 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs878854402
rs878854402
TBL1XR1
6 0.851 0.280 3 177033050 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs887386390
rs887386390
L2HGDH
3 0.925 0.120 14 50283990 missense variant T/C snv 0.010 1.000 1 2016 2016
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: rs1554032789
rs1554032789
NIPBL
13 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
dbSNP: rs1177566365
rs1177566365
RIMS2
1 8 103766303 missense variant G/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs281860639
rs281860639
KDM5C ; MIR6894
2 1.000 0.080 X 53199048 stop gained G/T snv 0.010 1.000 1 2011 2011