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+ Genes 1

Genes:
COL8A2,

+ Genes associated with diseases 1

Genes at Omim

COL8A2,
COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
Corneal dystrophy, posterior polymorphous 2, 609140 (3)

Genes at Clinical Genomics Database

COL8A2,
COL8A2 Corneal dystrophy polymorphous posterior, 2
Corneal dystrophy, Fuchs endothelial, 1

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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COL8A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2761_s29 1 rs57985157
dbSNP Clinvar 		36565739 100.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.09665 0.09665 0.01153 None None None None None None COL8A2|0.188633378|37.99%
View 2761_s29 1 rs35495320
dbSNP Clinvar 		36563797 95.0 C T PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.18151 0.18150 0.02243 None None None None None None COL8A2|0.188633378|37.99%
View 2761_s29 1 rs35841184
dbSNP Clinvar 		36563524 100.0 G A PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.01278 0.01278 0.01953 None None None None None None COL8A2|0.188633378|37.99%
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