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 CHR:

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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
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SHOW ONLY VARIANTS PRESENT AT HGMD

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

SCORES

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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+ Genes 1

Genes:
COL5A1,

+ Genes associated with diseases 1

Genes at Omim

COL5A1,
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)

Genes at Clinical Genomics Database

COL5A1,
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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COL5A1
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 6424_s25 9 rs2228560
dbSNP Clinvar 		137711997 100.0 G C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.01937 0.01937 0.42519 None None None None None None COL5A1|0.207487878|35.85%
View 6424_s25 9 rs3827848
dbSNP Clinvar 		137707834 100.0 G A PASS 0/1 29 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.14178 None None None None None None COL5A1|0.207487878|35.85%
View 6424_s25 9 rs3124299
dbSNP Clinvar 		137619195 100.0 C T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.34265 0.34270 0.33215 None None None None None None COL5A1|0.207487878|35.85%
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