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 CHR:

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FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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CADD

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+ Genes 1

Genes:
SQSTM1,

+ Genes associated with diseases 1

Genes at Omim

SQSTM1,
SQSTM1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3)
Myopathy, distal, with rimmed vacuoles, 617158 (3)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3)
Paget disease of bone 3, 167250 (3)

Genes at Clinical Genomics Database

SQSTM1,
SQSTM1 Paget disease of bone 3

Genes at HGMD

Summary

Number of Variants: 1
Number of Genes: 1

Export to: CSV
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SQSTM1
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 final-ma145 5 rs4935
dbSNP Clinvar 		179260153 1280.77 C T PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.69369 0.69370 0.40281 None None None None None None SQSTM1|0.259706406|30.77%
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