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: rs1555454508
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1555507479
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1556955128
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
0.790 0.160 6 78946061 frameshift variant A/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
0.776 0.320 6 78969879 frameshift variant A/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1562171209
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
0.925 0.160 10 76944829 missense variant T/C snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1569149539
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1569151204
rs1569151204
TCF20
0.925 0.160 22 42213495 frameshift variant CA/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1569356968
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs181109321
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs387906271
rs387906271
CHD7
0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs397507542
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs762864856
rs762864856
GLRA1 ; LOC112267935
0.925 0.200 5 151856384 splice acceptor variant C/G;T snv 8.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs770499406
rs770499406
ERCC8
0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs775769424
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs777323132
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs886041239
rs886041239
SMC3
1.000 0.160 10 110593202 missense variant A/G snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0