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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:

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
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+ Genes 1

Genes:
LAMB1,

+ Genes associated with diseases 1

Genes at Omim

LAMB1,
LAMB1 Lissencephaly 5, 615191 (3)

Genes at Clinical Genomics Database

LAMB1,
LAMB1 Lissencephaly 5

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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LAMB1
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 4k20002_01 gatk 7 rs2230156
dbSNP Clinvar 		107603431 1082.77 A C . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.28574 0.28570 0.30586 None None None None None None LAMB1|0.280288182|29.07%
View 4k20002_01 gatk 7 rs20556
dbSNP Clinvar 		107593989 2723.77 T C . 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69549 0.69550 0.34769 1.00 0.00 None None None None None None LAMB1|0.280288182|29.07%
View 4k20002_01 gatk 7 rs1131398
dbSNP Clinvar 		107569517 1652.77 A G . 0/1 107 SYNONYMOUS_CODING LOW SILENT 0.43351 0.43350 0.45348 None None None None None None DLD|0.821871316|5.26%,LAMB1|0.280288182|29.07%
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