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 GROUPS:

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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
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

SIFT SCORE

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:
UNC13D,

+ Genes associated with diseases 1

Genes at Omim

UNC13D,
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)

Genes at Clinical Genomics Database

UNC13D,
UNC13D Hemophagocytic lymphohistiocytosis, familial 3

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

UNC13D
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_961 17 rs7210574
dbSNP Clinvar 		73824121 102.203 T C PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.52616 0.52620 0.48052 None None None None None None UNC13D|0.046915794|63.63%
View sp16_961 17 rs1135688
dbSNP Clinvar 		73827205 152.084 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.49940 0.49940 0.49308 1.00 0.00 None None None None None None UNC13D|0.046915794|63.63%
View sp16_961 17 rs7223416
dbSNP Clinvar 		73836162 251.792 C G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.49022 0.49020 0.48408 None None None None None None UNC13D|0.046915794|63.63%
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