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: 7
Number of Genes: 1

Export to: CSV
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OR5H6

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 3 rs9853906
dbSNP Clinvar
97983942 2231710.71 A G PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.66334 0.66330 0.30944 0.03 0.00 None None None None None None OR5H6|0.001976143|91.06%
View 94533-0209701724_ms_onbait 3 rs9871143
dbSNP Clinvar
97983981 1444896.28 G A PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.31809 0.31810 0.45186 0.17 0.16 None None None None None None OR5H6|0.001976143|91.06%
View 94533-0209701724_ms_onbait 3 rs2132894
dbSNP Clinvar
97983257 2774414.06 C G PASS 1/1 258 SYNONYMOUS_CODING LOW None 0.70887 0.70890 0.25907 None None None None None None OR5H6|0.001976143|91.06%
View 94533-0209701724_ms_onbait 3 rs2173236
dbSNP Clinvar
97983391 2573436.27 C G,T PASS 1/2 243 NON_SYNONYMOUS_CODING MODERATE None 0.30192 0.30190 0.35791 0.72 0.00 None None None None None None OR5H6|0.001976143|91.06%
View 94533-0209701724_ms_onbait 3 rs74203917,rs398062605
dbSNP Clinvar
97983487 2480151.13 TT... T PASS 0/1 312 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31709 0.31710 0.43239 None None None None None None OR5H6|0.001976143|91.06%
View 94533-0209701724_ms_onbait 3 rs9289564
dbSNP Clinvar
97983561 3319480.43 G C PASS 1/1 304 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.26111 1.00 0.00 None None None None None None OR5H6|0.001976143|91.06%
View 94533-0209701724_ms_onbait 3 rs9853887
dbSNP Clinvar
97983711 2273366.77 T C PASS 1/1 181 NON_SYNONYMOUS_CODING MODERATE None 0.62500 0.62500 0.33734 0.00 0.99 None None None None None None OR5H6|0.001976143|91.06%
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