+ Filter Options

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 1

Genes:
FBN1,

+ Genes associated with diseases 1

Genes at Omim

FBN1,
FBN1 Ectopia lentis, familial, 129600 (3)
Geleophysic dysplasia 2, 614185 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
Acromicric dysplasia, 102370 (3)

Genes at Clinical Genomics Database

FBN1,
FBN1 Marfan syndrome
MASS syndrome
Shprintzen-Goldberg syndrome
Marfan lipodystrophy syndrome

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

FBN1
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 257_mg_v1 15 rs4775765
dbSNP Clinvar 		48807637 2313.55 C T PASS 1/1 240 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None FBN1|0.938751901|2.53%
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 257_mg_v1 15 rs2303502
dbSNP Clinvar 		48736684 100.0 A T PASS 1/1 740 None None None 0.62081 0.62080 None None None None None None FBN1|0.938751901|2.53%
View 257_mg_v1 15 rs363832
dbSNP Clinvar 		48720526 100.0 G C PASS 1/1 756 None None None 0.65595 0.65600 0.32161 None None None None None None FBN1|0.938751901|2.53%
View 257_mg_v1 15 rs1042078
dbSNP Clinvar 		48702873 100.0 G A PASS 1/1 854 None None None 0.60004 0.60000 None None None None None None FBN1|0.938751901|2.53%
View 257_mg_v1 15 rs13598
dbSNP Clinvar 		48702457 100.0 C A PASS 1/1 1062 None None None 0.91933 0.91930 None None None None None None FBN1|0.938751901|2.53%
View 257_mg_v1 15 rs4775760
dbSNP Clinvar 		48701612 100.0 A C PASS 1/1 719 None None None 0.65695 0.65690 None None None None None None FBN1|0.938751901|2.53%
View 257_mg_v1 15 rs11070641
dbSNP Clinvar 		48701029 100.0 C T PASS 1/1 549 None None None 0.78235 0.78230 None None None None None None FBN1|0.938751901|2.53%
  • Page 1 of 1