Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517491
rs1057517491
0.776 0.240 13 20189448 frameshift variant C/- delins
Keratitis-Ichthyosis-Deafness Syndrome
Eye Diseases 0.100 1.000 11 2006 2019
dbSNP: rs72561723
rs72561723
0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06
Keratitis-Ichthyosis-Deafness Syndrome
Eye Diseases 0.100 1.000 11 2006 2019
dbSNP: rs28931594
rs28931594
0.790 0.280 13 20189434 missense variant C/A;T snv
Keratitis-Ichthyosis-Deafness Syndrome
Eye Diseases 0.080 1.000 8 2003 2019
dbSNP: rs104894408
rs104894408
0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04
Keratitis-Ichthyosis-Deafness Syndrome
Eye Diseases 0.050 1.000 5 2004 2018
dbSNP: rs1165937383
rs1165937383
0.925 0.240 13 20189540 frameshift variant -/T delins 2.1E-05
Keratitis-Ichthyosis-Deafness Syndrome
Eye Diseases 0.030 1.000 3 2004 2009
dbSNP: rs104894410
rs104894410
0.807 0.320 13 20189407 missense variant C/G;T snv
Keratitis-Ichthyosis-Deafness Syndrome
Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs28929485
rs28929485
0.807 0.320 13 20189532 missense variant G/A;C snv
Keratitis-Ichthyosis-Deafness Syndrome
Eye Diseases 0.010 1.000 1 2004 2004