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: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 1.000 1 2016 2016
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1555565774
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1555570110
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs1569509136
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs199469464
rs199469464
SRCAP
0.807 0.200 16 30737370 stop gained C/T snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0