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 GROUPS:

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MUTATION TYPE:
 CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


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
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
DHCR7,

+ Genes associated with diseases 1

Genes at Omim

DHCR7,
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)

Genes at Clinical Genomics Database

DHCR7,
DHCR7 Smith-Lemli-Opitz syndrome

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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DHCR7
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 sp16_multisample SP16_819 11 rs760241
dbSNP Clinvar 		71146691 201.76 A G PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.75639 0.75640 0.12881 None None None None None None DHCR7|0.081765547|54.8%
View sp16_multisample SP16_819 11 rs949177
dbSNP Clinvar 		71152461 109.17 A G PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.80731 0.80730 0.09001 None None None None None None DHCR7|0.081765547|54.8%
View sp16_multisample SP16_819 11 rs1790334
dbSNP Clinvar 		71155153 108.37 A G PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.08708 None None None None None None DHCR7|0.081765547|54.8%
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