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: 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
dbSNP: rs137854544
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 3 1996 2014
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 1 2009 2009
dbSNP: rs786200963
rs786200963
CACNA1A
0.827 0.200 19 13371683 splice region variant C/T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 1 2015 2015
dbSNP: rs1057516048
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 1 2016 2016
dbSNP: rs760378316
rs760378316
KPNA7
1.000 0.160 7 99203201 stop gained G/A snv 3.2E-05 6.3E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 1 2016 2016
dbSNP: rs797045140
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 1 2016 2016
dbSNP: rs1555639076
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 1 2017 2017
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 1 2018 2018