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: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
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: rs869312873
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2016 2016
dbSNP: rs1064796765
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv
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: rs1555247805
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del
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: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-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: rs794727792
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs878853165
rs878853165
MAST1 ; HOOK2
0.882 0.200 19 12843558 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
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: rs1568269273
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1564341846
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1555736565
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1057519429
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1555745467
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A 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: 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: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs28934907
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv
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: 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