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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 1

Export to: CSV
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OR4L1

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 rbna2s annoted 14 rs1958715
dbSNP Clinvar
20528207 58.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53674 0.53670 0.43087 0.16 0.01 None None None None None None OR4L1|0.011360474|79.72%
View rbna2s annoted 14 rs1959628
dbSNP Clinvar
20529043 46.0 C G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.42851 0.42850 0.33546 None None None None None None OR4L1|0.011360474|79.72%
View rbna2s annoted 14 rs1959629
dbSNP Clinvar
20529019 51.0 C T . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.43151 0.43150 0.34069 None None None None None None OR4L1|0.011360474|79.72%
View rbna2s annoted 14 rs2775254
dbSNP Clinvar
20528528 74.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42612 0.42610 0.33362 0.01 0.61 None None None None None None OR4L1|0.011360474|79.72%
View rbna2s annoted 14 rs2775253
dbSNP Clinvar
20528505 68.0 T A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42632 0.42630 0.33285 0.00 0.60 None None None None None None OR4L1|0.011360474|79.72%
View rbna2s annoted 14 rs112192573,rs33965693
dbSNP Clinvar
20528448 71.0 TC... T . 0/1 0 FRAME_SHIFT HIGH 0.53215 0.53210 None None None None None None OR4L1|0.011360474|79.72%
View rbna2s annoted 14 rs1958717
dbSNP Clinvar
20528362 53.0 A G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.53854 0.53850 0.43695 None None None None None None OR4L1|0.011360474|79.72%
View rbna2s annoted 14 rs1959630
dbSNP Clinvar
20528359 56.0 G T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97125 0.97120 0.02830 0.12 0.00 None None None None None None OR4L1|0.011360474|79.72%
View rbna2s annoted 14 rs1958716
dbSNP Clinvar
20528321 70.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53674 0.53670 0.43203 0.26 0.00 None None None None None None OR4L1|0.011360474|79.72%
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