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: rs1566823361
rs1566823361
0.742 0.440 13 101726732 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1553200431
rs1553200431
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1057524237
rs1057524237
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: rs1554110735
rs1554110735
0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
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: rs397507509
rs397507509
0.807 0.240 12 112450359 missense variant G/C;T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121918459
rs121918459
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: rs121918466
rs121918466
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs397507520
rs397507520
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121918456
rs121918456
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
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: rs121918455
rs121918455
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121918467
rs121918467
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs397507539
rs397507539
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs397507540
rs397507540
0.851 0.160 12 112489048 missense variant C/A;T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs397507547
rs397507547
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
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: rs121918470
rs121918470
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06
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: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121918487
rs121918487
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1564919048
rs1564919048
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs80338796
rs80338796
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121913378
rs121913378
0.776 0.280 7 140753337 missense variant C/A;G;T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121913375
rs121913375
0.851 0.240 7 140753339 missense variant G/A;C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0