SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
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

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

TRPV3,
TRPV3 ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
Olmsted syndrome, 614594 (3)

Genes at Clinical Genomics Database

TRPV3,
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 1

Export to: CSV
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TRPV3

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 rs11078458
dbSNP Clinvar
3445901 416.571 T G PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.57907 0.57910 0.48531 None None None None None None TRPV3|0.223871602|33.97%
View sp16_961 17 rs322937
dbSNP Clinvar
3446885 123.553 T C PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.25080 0.25080 0.32001 0.20 0.05 None None None None None None TRPV3|0.223871602|33.97%
View sp16_961 17 rs1039519
dbSNP Clinvar
3447914 116.449 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.66254 0.66250 0.41381 None None None None None None TRPV3|0.223871602|33.97%
View sp16_961 17 rs322965
dbSNP Clinvar
3458072 940.791 T C PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.99720 0.99720 0.00200 0.80 0.00 None None None None None None TRPV3|0.223871602|33.97%
View sp16_961 17 rs7216486
dbSNP Clinvar
3422032 1698.47 G A PASS 1/1 177 SYNONYMOUS_CODING LOW None 0.66893 0.66890 0.47055 None None None None None None TRPV3|0.223871602|33.97%
View sp16_961 17 rs12946883
dbSNP Clinvar
3422077 337.873 G A PASS 0/1 178 SYNONYMOUS_CODING LOW None 0.32768 0.32770 0.29686 None None None None None None TRPV3|0.223871602|33.97%
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