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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

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:
PIP5K1C,

+ Genes associated with diseases 1

Genes at Omim

PIP5K1C,
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)

Genes at Clinical Genomics Database

PIP5K1C,
PIP5K1C Lethal congenital contractural syndrome 3

Genes at HGMD

Summary

Number of Variants: 2
Number of Genes: 1

Export to: CSV
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PIP5K1C
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 94533-0209701724_ms_onbait 19 rs60418344
dbSNP Clinvar 		3641792 22710.69 T C PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.02536 0.02536 0.02614 None None None None None None PIP5K1C|0.05958372|59.99%
View 94533-0209701724_ms_onbait 19 rs2074957
dbSNP Clinvar 		3653525 2744961.14 C T PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.54293 0.54290 0.47055 None None None None None None PIP5K1C|0.05958372|59.99%
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