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: 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: 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: 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: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs142239530
rs142239530
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
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: 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: rs1553212868
rs1553212868
0.807 0.280 1 151406264 frameshift variant G/- delins
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: 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: rs1554317931
rs1554317931
0.851 0.080 7 42045460 frameshift variant G/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1554496813
rs1554496813
0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1554846212
rs1554846212
0.851 0.160 10 75030037 missense variant 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: rs1555380716
rs1555380716
0.882 0.120 15 34255385 frameshift variant -/C delins
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: rs1557194525
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del
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: rs1559193213
rs1559193213
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1563183492
rs1563183492
0.708 0.520 7 70766248 missense variant C/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: rs1565706229
rs1565706229
0.851 0.120 11 86277110 missense variant T/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
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: rs1569167586
rs1569167586
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0