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+ Genes 5

Genes:
APC, CPSF6, DHH, PABPC1, TES,

+ Genes associated with diseases 2

Genes at Omim

APC, DHH,
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Hepatoblastoma, somatic, 114550 (3)
DHH 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3)
46XY sex reversal 7, 233420 (3)

Genes at Clinical Genomics Database

APC, DHH,
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
DHH 46,XY partial gonadal dysgenesis, with minifascicular neuropathy
46,XY sex reversal 7

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 5

Export to: CSV
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APC
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 62388010_s7 mvar 62388010_S7.GATK 5 rs41115
dbSNP Clinvar 		112175770 1784.77 G A PASS 1/1 0 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%

CPSF6
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 62388010_s7 mvar 62388010_S7.GATK 12 rs2305641
dbSNP Clinvar 		69646914 381.77 G A PASS 0/1 0 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.42871 0.42870 0.44162 None None None None None None CPSF6|0.653941863|9.94%

DHH
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 62388010_s7 mvar 62388010_S7.GATK 12 rs117527954
dbSNP Clinvar 		49484933 2935.77 G A PASS 0/1 0 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.00779 0.00779 0.00677 None None None None None None DHH|0.614604199|11.3%

PABPC1
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 62388010_s7 mvar 62388010_S7.GATK 8 rs78407297
dbSNP Clinvar 		101717237 77.77 C T PASS 0/1 0 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.08 0.87 None None None None None None PABPC1|0.793315578|6.01%

TES
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 62388010_s7 mvar 62388010_S7.GATK 7 rs4710
dbSNP Clinvar 		115897392 793.77 G C PASS 0/1 0 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.39896 0.39900 0.30794 None None None None None None TES|0.907015095|3.3%
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