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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE 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

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
B3GNT8,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV
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B3GNT8
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 grc14378018_exome 19 rs45563938
dbSNP Clinvar 		41932063 100.702 A G . 0/1 27 SYNONYMOUS_CODING LOW None 0.06270 0.06270 0.10557 None None None None None None B3GNT8|0.010708534|80.36%
View grc14378018_exome 19 rs284660
dbSNP Clinvar 		41932084 1380.03 G T . 1/1 28 SYNONYMOUS_CODING LOW None 0.49101 0.49100 0.44879 None None None None None None B3GNT8|0.010708534|80.36%
View grc14378018_exome 19 rs284661
dbSNP Clinvar 		41932120 1484.13 C T . 1/1 68 SYNONYMOUS_CODING LOW None 0.49082 0.49080 0.44949 None None None None None None B3GNT8|0.010708534|80.36%
View grc14378018_exome 19 rs284662
dbSNP Clinvar 		41932275 1484.13 T C,G . 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.62181 0.62180 0.31362 0.89 0.00 None None None None None None B3GNT8|0.010708534|80.36%
View grc14378018_exome 19 rs284663
dbSNP Clinvar 		41932612 1484.13 C T . 1/1 161 SYNONYMOUS_CODING LOW None 0.61741 0.61740 0.31906 None None None None None None B3GNT8|0.010708534|80.36%
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