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: rs866294686
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0027092
Disease: Myopia
Myopia 		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: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs879255531
rs879255531
EHMT1
0.882 0.400 9 137728379 stop gained C/T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs397507478
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1057518799
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs28934907
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1057518938
rs1057518938
MYH11 ; NDE1
0.882 0.080 16 15724166 missense variant C/G snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs121912683
rs121912683
SLC25A4
0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs876657731
rs876657731
USH2A ; LOC102723833
0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs533297350
rs533297350
COL4A4
1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs569681869
rs569681869
COL4A4
0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1327062642
rs1327062642
TULP1
0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		0.700 1.000 1 2017 2017
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0