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: rs1057518848
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG 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: rs1057518799
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA 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: 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: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G 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: rs1569518070
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del
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: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
0.742 0.360 6 78961751 frameshift variant C/- del
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: 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: rs397507478
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/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: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
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: 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: 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: rs1057518938
rs1057518938
MYH11 ; NDE1
0.882 0.080 16 15724166 missense variant C/G snv
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: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
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: rs1085307138
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0