Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 1.000 2 2008 2008
dbSNP: rs863225264
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 1.000 2 2015 2016
dbSNP: rs1057519087
rs1057519087
MFSD2A
0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2015 2015
dbSNP: rs115466046
rs115466046
KCNJ10
1 160042480 missense variant C/T snv 1.2E-02 1.1E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2008 2008
dbSNP: rs140646329
rs140646329
KCNJ10
1 160042283 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs374073809
rs374073809
VASH2
1 212961166 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 3.2E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs4846049
rs4846049
MTHFR ; C1orf167
0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs753303079
rs753303079
CD55
1 207325673 missense variant C/G;T snv 8.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2013 2013
dbSNP: rs864309721
rs864309721
CDC42
1.000 1 22086451 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs886041761
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
dbSNP: rs930549037
rs930549037
COL9A2
1 40301333 missense variant C/T snv 4.4E-05 2.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs745756308
rs745756308
HNMT ; LOC107985948
1.000 2 138013874 missense variant T/C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 1.000 2 2015 2017
dbSNP: rs10194776
rs10194776
HTR2B ; PSMD1
2 231115305 intron variant C/T snv 0.54
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs1171889657
rs1171889657
HADHB
2 26273656 missense variant T/C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs16827801
rs16827801
HTR2B ; PSMD1
2 231116063 intron variant A/C;G snv 0.40
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs199583537
rs199583537
LRP2
2 169170596 missense variant C/T snv 2.5E-04 9.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
dbSNP: rs387906799
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs587777570
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs758252808
rs758252808
HNMT
1.000 2 137970206 missense variant G/A snv 4.1E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2017 2017
dbSNP: rs768560449
rs768560449
IMMT
1.000 0.160 2 86166521 missense variant A/G snv 8.1E-06 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2017 2017
dbSNP: rs781442277
rs781442277
CENPO ; PTRHD1 ; LOC105369164
1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2017 2017