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: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2016 2016
dbSNP: rs869312822
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2016 2016
dbSNP: rs869312823
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2016 2016
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1553196101
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1553196134
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs730882203
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs869025195
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs587777449
rs587777449
IFIH1
0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1057518926
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1057519436
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1172486173
rs1172486173
QARS1 ; MIR6890
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs185476065
rs185476065
QARS1 ; MIR6890
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 2 2012 2015
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2015 2015