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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
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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
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SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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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:
PRODH,

+ Genes associated with diseases 1

Genes at Omim

PRODH,
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)

Genes at Clinical Genomics Database

PRODH,
PRODH Hyperprolinemia, type I

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV
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PRODH
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 combined sample_51.variant15 22 rs372055
dbSNP Clinvar 		18900750 4217.81 G A PASS 1/1 163 SYNONYMOUS_CODING LOW None 0.76338 0.76340 0.24120 None None None None None None DGCR6|0.0553658|61.1%,PRODH|0.133392589|45.38%
View combined sample_51.variant15 22 rs450046
dbSNP Clinvar 		18901004 2583.88 C T PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.90555 0.90560 0.09580 0.42 0.00 None None None None None None DGCR6|0.0553658|61.1%,PRODH|0.133392589|45.38%
View combined sample_51.variant15 22 rs455072
dbSNP Clinvar 		18904414 722.21 A G PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.83746 0.83750 None None None None None None PRODH|0.133392589|45.38%
View combined sample_51.variant15 22 rs2904552
dbSNP Clinvar 		18905964 1129.91 C T PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.04293 0.04293 0.08159 0.06 0.17 None None None None None None PRODH|0.133392589|45.38%
View combined sample_51.variant15 22 rs1808320
dbSNP Clinvar 		18908875 1637.57 A G PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.73143 0.73140 0.33549 None None None None None None PRODH|0.133392589|45.38%
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