Source: CURATED

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: rs386834034
rs386834034
TSPAN1 ; POMGNT1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2016 2016
dbSNP: rs1135401761
rs1135401761
AHDC1
0.925 0.200 1 27548302 stop gained G/A;C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs863225264
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs878853325
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs886041300
rs886041300
KCNH1
1.000 0.160 1 210920032 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs369691608
rs369691608
BCS1L ; ZNF142
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869025316
rs869025316
UNC80
0.925 0.160 2 209918616 missense variant C/T snv 3.8E-05 2.8E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869025317
rs869025317
UNC80
0.925 0.160 2 209959707 missense variant G/C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869025318
rs869025318
UNC80
0.925 0.160 2 209820379 frameshift variant A/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869025319
rs869025319
UNC80
0.925 0.160 2 209967586 stop gained T/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1553630279
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 3 1989 2017
dbSNP: rs112795301
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.710 1.000 0 2019 2019
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1554150607
rs1554150607
MEF2C
0.925 0.160 5 88823786 start lost C/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 4 2009 2013
dbSNP: rs1554041295
rs1554041295
ZSWIM6
0.925 0.160 5 61541917 stop gained C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs1131692231
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs61753219
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs796052056
rs796052056
TMEM70
0.882 0.240 8 73976397 frameshift variant -/GT delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 3 2008 2014
dbSNP: rs201893408
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1554691658
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0