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: rs864321670
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T 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: rs1555639076
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 1.000 1 2017 2017
dbSNP: rs397507478
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1057518829
rs1057518829
CACNA1F
1.000 0.040 X 49230343 stop gained T/A snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1057518891
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/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: rs121912882
rs121912882
COL2A1 ; LOC105369752
0.851 0.280 12 47979534 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: rs1569518070
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-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: rs1064795104
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 1.000 2 2013 2014
dbSNP: rs1057518812
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1057518881
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1057518909
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
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: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- 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: rs1568019012
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0