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: rs1064795104
rs1064795104
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 1.000 2 2013 2014
dbSNP: rs1327062642
rs1327062642
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: rs1555639076
rs1555639076
0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0027092
Disease: Myopia
Myopia
0.700 1.000 1 2017 2017
dbSNP: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1057518829
rs1057518829
1.000 0.040 X 49230343 stop gained T/A snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1057518848
rs1057518848
0.827 0.240 18 55229003 frameshift variant -/ATTG delins
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1057518881
rs1057518881
0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1057518891
rs1057518891
0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1057518909
rs1057518909
0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1057518938
rs1057518938
0.882 0.080 16 15724166 missense variant C/G snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1085307138
rs1085307138
0.807 0.160 8 143817591 splice donor variant C/T snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs111854391
rs111854391
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs113422242
rs113422242
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs121912683
rs121912683
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: rs121912882
rs121912882
0.851 0.280 12 47979534 missense variant G/A snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1294950721
rs1294950721
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: rs1331463984
rs1331463984
0.701 0.240 16 2176350 missense variant G/A snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs142239530
rs142239530
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1441937959
rs1441937959
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1553200431
rs1553200431
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1554208945
rs1554208945
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1554210073
rs1554210073
0.752 0.320 6 79042844 frameshift variant GT/A delins
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1554317002
rs1554317002
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1555429629
rs1555429629
0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0027092
Disease: Myopia
Myopia
0.700 0