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+ Genes 1

Genes:
ERCC6,

+ Genes associated with diseases 1

Genes at Omim

ERCC6,
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)

Genes at Clinical Genomics Database

ERCC6,
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)

Genes at HGMD

Summary

Number of Variants: 1
Number of Genes: 1

Export to: CSV
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ERCC6
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 manuela_niro 10 rs2229760
dbSNP Clinvar 		50681033 43.02 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.25419 0.25420 0.32377 None None None None None None ERCC6|0.075391491|56.19%
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