Disease: Myopia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9