Source: CLINVAR

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: rs869312672
rs869312672
SMC3
0.925 0.200 10 110577847 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1057519561
rs1057519561
SNX14
0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs774694340
rs774694340
SNX14
0.882 0.200 6 85508043 frameshift variant A/- del 6.4E-05 1.4E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312677
rs869312677
SYNGAP1
0.925 0.160 6 33446780 frameshift variant TTGGCAG/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1135402761
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312704
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1569146993
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312678
rs869312678
TCF20
0.925 0.160 22 42209920 frameshift variant CA/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs56144125
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs796053439
rs796053439
TPP1
0.925 0.240 11 6616714 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs119103286
rs119103286
TTC8
0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs878853162
rs878853162
TUBB
0.851 0.320 6 30723724 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs139194636
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs757600616
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312689
rs869312689
ZBTB18
0.925 0.160 1 244053934 missense variant T/C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs777843533
rs777843533
ZMIZ1
0.925 0.160 10 79307487 frameshift variant -/C delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1060499626
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1555970404
rs1555970404
ZNF711
0.882 0.200 X 85255275 frameshift variant -/A delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 2 2009 2017