Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518799
rs1057518799
POGZ
CUI: C0027092
Disease: Myopia
Myopia 		TGATTGGCA 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518812
rs1057518812
FBN1
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518829
rs1057518829
CACNA1F
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518848
rs1057518848
TCF4
CUI: C0027092
Disease: Myopia
Myopia 		CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1057518881
rs1057518881
FBN1
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518891
rs1057518891
CHD7
CUI: C0027092
Disease: Myopia
Myopia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518909
rs1057518909
FBN1
CUI: C0027092
Disease: Myopia
Myopia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518938
rs1057518938
MYH11 ; NDE1
CUI: C0027092
Disease: Myopia
Myopia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1064795104
rs1064795104
EXOC6B
CUI: C0027092
Disease: Myopia
Myopia 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
dbSNP: rs1064795104
rs1064795104
EXOC6B
CUI: C0027092
Disease: Myopia
Myopia 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
CUI: C0027092
Disease: Myopia
Myopia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs111854391
rs111854391
TGFBR1
CUI: C0027092
Disease: Myopia
Myopia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912683
rs121912683
SLC25A4
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121912882
rs121912882
COL2A1 ; LOC105369752
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1294950721
rs1294950721
JAG1
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1327062642
rs1327062642
TULP1
CUI: C0027092
Disease: Myopia
Myopia 		TG 0.700 CausalMutation CLINVAR Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. 29178942

2017
dbSNP: rs1331463984
rs1331463984
TRAF7
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs142239530
rs142239530
STIM1
CUI: C0027092
Disease: Myopia
Myopia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1441937959
rs1441937959
EFL1
CUI: C0027092
Disease: Myopia
Myopia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553200431
rs1553200431
COL11A1
CUI: C0027092
Disease: Myopia
Myopia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
ZNF292
CUI: C0027092
Disease: Myopia
Myopia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554210073
rs1554210073
PHIP
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
CUI: C0027092
Disease: Myopia
Myopia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 GeneticVariation CLINVAR