Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151341424
rs151341424
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.810 GeneticVariation UNIPROT The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). 21901792 2011
dbSNP: rs151341424
rs151341424
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.810 GeneticVariation BEFREE The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). 21901792 2011
dbSNP: rs151341424
rs151341424
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.810 GeneticVariation UNIPROT Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses. 21368206 2011
dbSNP: rs151341424
rs151341424
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.810 GeneticVariation UNIPROT Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977 2007
dbSNP: rs151341424
rs151341424
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.810 GeneticVariation UNIPROT Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. 17503335 2007
dbSNP: rs151341424
rs151341424
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		TT 0.810 CausalMutation CLINVAR
dbSNP: rs11638831
rs11638831
Entrez Id: 64220;80125
Gene Symbol: STRA6;CCDC33
STRA6;CCDC33
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs351237
rs351237
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs144691445
rs144691445
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		G 0.700 CausalMutation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459 2016
dbSNP: rs869025269
rs869025269
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		C 0.700 CausalMutation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459 2016
dbSNP: rs118203958
rs118203958
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs118203959
rs118203959
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs118203960
rs118203960
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs118203961
rs118203961
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs118203962
rs118203962
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		G 0.700 CausalMutation CLINVAR
dbSNP: rs151341424
rs151341424
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C3540845
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8 		TT 0.700 CausalMutation CLINVAR
dbSNP: rs1555457882
rs1555457882
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555457919
rs1555457919
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		CGG 0.700 CausalMutation CLINVAR
dbSNP: rs1567177198
rs1567177198
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs267607096
rs267607096
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397514638
rs397514638
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397514639
rs397514639
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397518484
rs397518484
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs606231125
rs606231125
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs606231126
rs606231126
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		GG 0.700 CausalMutation CLINVAR