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: rs1567815105
rs1567815105
0.807 0.240 16 57660794 frameshift variant -/T delins
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs387907144
rs387907144
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: rs1555743003
rs1555743003
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 1.000 1 2016 2016
dbSNP: rs1057519429
rs1057519429
0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1555736565
rs1555736565
0.925 0.080 19 13230191 missense variant C/A;T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1555745467
rs1555745467
0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1553196101
rs1553196101
0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1553196134
rs1553196134
0.925 0.080 1 22086856 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1060499733
rs1060499733
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs730882203
rs730882203
0.851 0.080 1 46510953 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1064796765
rs1064796765
0.763 0.240 14 102002950 missense variant G/A snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1057519389
rs1057519389
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 1.000 1 2017 2017
dbSNP: rs1554888939
rs1554888939
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1564919048
rs1564919048
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs267606826
rs267606826
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1057518926
rs1057518926
0.925 0.120 3 70977675 missense variant G/C snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1085307993
rs1085307993
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1057518843
rs1057518843
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs377274761
rs377274761
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs864309488
rs864309488
0.776 0.440 6 24777296 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 1.000 1 2015 2015
dbSNP: rs137854539
rs137854539
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs752746786
rs752746786
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
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
0.882 0.080 1 1806509 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 1.000 1 2016 2016