Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894464
rs104894464
OTX2
1 1.000 0.080 14 56802340 stop gained G/A;C snv 0.800 1.000 4 2005 2013
dbSNP: rs786205224
rs786205224
OTX2
1 1.000 0.080 14 56804202 missense variant C/T snv 0.800 0
dbSNP: rs104894465
rs104894465
OTX2
2 0.925 0.080 14 56802068 stop gained A/G;T snv 2.0E-05 0.700 0
dbSNP: rs1555350156
rs1555350156
OTX2
1 1.000 0.080 14 56801845 frameshift variant GTTG/- delins 0.700 0
dbSNP: rs1555350223
rs1555350223
OTX2
1 1.000 0.080 14 56802202 frameshift variant -/G delins 0.700 0
dbSNP: rs1566622571
rs1566622571
OTX2
1 1.000 0.080 14 56801956 frameshift variant C/- delins 0.700 0
dbSNP: rs1566623121
rs1566623121
OTX2
1 1.000 0.080 14 56802199 frameshift variant -/AG delins 0.700 0
dbSNP: rs1566623392
rs1566623392
OTX2
1 1.000 0.080 14 56802335 missense variant T/A snv 0.700 0
dbSNP: rs1566624472
rs1566624472
OTX2
1 1.000 0.080 14 56804201 frameshift variant GGGCAAGTTGATTTTC/- delins 0.700 0
dbSNP: rs376333965
rs376333965
OTX2
1 1.000 0.080 14 56802208 missense variant G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs397514463
rs397514463
OTX2
1 1.000 0.080 14 56802043 stop gained C/A snv 0.700 0
dbSNP: rs753783256
rs753783256
OTX2
1 1.000 0.080 14 56802205 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs786205873
rs786205873
OTX2
1 1.000 0.080 14 56802140 frameshift variant -/GC delins 0.700 0
dbSNP: rs786205874
rs786205874
OTX2
1 1.000 0.080 14 56805376 frameshift variant G/- delins 0.700 0
dbSNP: rs786205879
rs786205879
OTX2
2 1.000 0.080 14 56802192 stop gained G/C snv 0.700 0
dbSNP: rs786205884
rs786205884
OTX2
1 1.000 0.080 14 56802313 frameshift variant G/- del 0.700 0