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: rs1034395178
rs1034395178
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: rs1057516030
rs1057516030
0.807 0.280 21 37480785 stop gained -/A delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1114167291
rs1114167291
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
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
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs149830411
rs149830411
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: rs1554196416
rs1554196416
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1554236040
rs1554236040
0.882 0.320 6 157201464 stop gained C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1555038111
rs1555038111
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1555932766
rs1555932766
0.882 0.080 X 41210540 stop gained C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1557781252
rs1557781252
0.742 0.320 1 153816414 stop gained G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs398124401
rs398124401
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: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs587784105
rs587784105
0.732 0.440 5 177235863 stop gained G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs77078070
rs77078070
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: rs778139192
rs778139192
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs875989803
rs875989803
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs180177035
rs180177035
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: rs28933386
rs28933386
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: rs397507549
rs397507549
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: rs1057519942
rs1057519942
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
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
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: rs369634007
rs369634007
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: rs779027563
rs779027563
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