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: rs1562846694
rs1562846694
TFR2 ; ACTL6B
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2019 2019
dbSNP: rs1569548274
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
0.925 0.120 12 23755726 splice acceptor variant T/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: rs34757931
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs758361736
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-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: 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: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C 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: rs1553196101
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1556978515
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1569509136
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
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: 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: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
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: rs1352010373
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1556912828
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv
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: rs376754460
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0