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: rs727503030
rs727503030
ELN
0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs149830411
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs180177135
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs369634007
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2016 2016
dbSNP: rs749203329
rs749203329
MLLT1
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs77078070
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs28933386
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 2 2001 2006
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2017 2017
dbSNP: rs368869806
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs180177035
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 2 2006 2006
dbSNP: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 2 2005 2006
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2018 2018
dbSNP: rs1057519942
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2019 2019
dbSNP: rs1553630457
rs1553630457
TGFBR2
0.882 0.240 3 30674231 missense variant T/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2017 2017
dbSNP: rs797045141
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2016 2016
dbSNP: rs1057516030
rs1057516030
DYRK1A ; LOC105372797
0.807 0.280 21 37480785 stop gained -/A delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1057519369
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
0.882 0.120 2 178577785 stop gained G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0