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+ Genes 1

Genes:
CYP11B1,

+ Genes associated with diseases 1

Genes at Omim

CYP11B1,
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)

Genes at Clinical Genomics Database

CYP11B1,
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism

Genes at HGMD

Summary

Number of Variants: 1
Number of Genes: 1

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CYP11B1
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 combined sample_94.variant39 8 rs7818826
dbSNP Clinvar 		143959250 482.87 T C PASS 1/1 113 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59105 0.59110 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%
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