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+ Genes 1

Genes:
LTBP2,

+ Genes associated with diseases 1

Genes at Omim

LTBP2,
LTBP2 ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)

Genes at Clinical Genomics Database

LTBP2,
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3

Genes at HGMD

Summary

Number of Variants: 17
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

LTBP2
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 16420_s8 14 rs61505039
dbSNP Clinvar 		74976452 100.0 C T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.06030 0.06030 0.00323 0.01 0.34 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs862031
dbSNP Clinvar 		74991855 100.0 A G PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.72824 0.72820 0.28618 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs699374
dbSNP Clinvar 		74992800 100.0 A G PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None LTBP2|0.184719306|38.39%
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 16420_s8 14 rs862029
dbSNP Clinvar 		74994201 100.0 G A PASS 1/1 33 None None None 0.09105 0.09105 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs699375
dbSNP Clinvar 		74992861 100.0 A C PASS 1/1 58 None None None 0.37840 0.37840 0.34895 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs862030
dbSNP Clinvar 		74991959 100.0 T C PASS 1/1 40 None None None 0.43151 0.43150 0.39882 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs862032
dbSNP Clinvar 		74991741 100.0 T A PASS 1/1 90 None None None 0.12859 0.12860 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs699371
dbSNP Clinvar 		74989433 100.0 T C PASS 1/1 91 None None None 0.73642 0.73640 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs7160756
dbSNP Clinvar 		74976986 100.0 A G PASS 1/1 10 None None None 0.62760 0.62760 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs111988741
dbSNP Clinvar 		74973583 100.0 C CGT PASS 1/1 86 None None None None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 . 74973581 100.0 T TG... PASS 0/1 85 None None None None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 . 74973579 100.0 TGT CGC PASS 0/1 87 None None None None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs2286411
dbSNP Clinvar 		74972942 100.0 G A PASS 0/1 78 None None None 0.16973 0.16970 0.13560 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs3742793
dbSNP Clinvar 		75070493 100.0 G C PASS 0/1 68 None None None 0.37161 0.37160 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs11159087
dbSNP Clinvar 		74971374 100.0 C T PASS 0/1 95 None None None 0.19070 0.19070 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs11622992
dbSNP Clinvar 		75019157 100.0 T C PASS 0/1 67 None None None 0.49900 0.49900 None None None None None None LTBP2|0.184719306|38.39%
View 16420_s8 14 rs862025
dbSNP Clinvar 		74999108 100.0 C T PASS 1/1 77 None None None 0.36002 0.36000 0.30886 None None None None None None LTBP2|0.184719306|38.39%
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