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: rs1163944538
rs1163944538
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1057518848
rs1057518848
0.827 0.240 18 55229003 frameshift variant -/ATTG delins
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1567815105
rs1567815105
0.807 0.240 16 57660794 frameshift variant -/T delins
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs730882198
rs730882198
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1555247805
rs1555247805
0.925 0.160 12 116008442 frameshift variant A/- del
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
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: rs1555570110
rs1555570110
0.827 0.240 17 7586766 missense variant A/C snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1557006873
rs1557006873
0.925 0.280 X 53615786 missense variant A/C snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs782393002
rs782393002
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05
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: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 1.000 7 2006 2009
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: rs869312824
rs869312824
0.827 0.200 1 1804565 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 1.000 1 2016 2016
dbSNP: rs1057519443
rs1057519443
0.882 0.200 2 201675255 missense variant A/G 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: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs376823382
rs376823382
0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs886039807
rs886039807
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs778543124
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1557043622
rs1557043622
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 1.000 1 2019 2019
dbSNP: rs1555745467
rs1555745467
0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1564341846
rs1564341846
0.790 0.280 9 131508926 missense variant C/A 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: 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