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

ACTN2, LDLRAP1, PCSK9, TNNT2,
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
TNNT2 Cardiomyopathy, dilated, 1D, 601494 (3)
Cardiomyopathy, familial restrictive, 3, 612422 (3)
Cardiomyopathy, hypertrophic, 2, 115195 (3)
Left ventricular noncompaction 6, 601494 (3)

Genes at Clinical Genomics Database

ACTN2, LDLRAP1, PCSK9, TNNT2,
ACTN2 Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive
PCSK9 Hypercholesterolemia, familial, 3
TNNT2 Cardiomyopathy, familial restrictive, 3
Cardiomyopathy, dilated, 1D
Left ventricular noncompaction 6
Cardiomyopathy, familial hypertrophic, 2

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 5

Export to: CSV
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ACTN2

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 output 09_chr1 fa filtered3 1 rs1341863
dbSNP Clinvar
236883421 66.2 C T PASS 1/1 504 SYNONYMOUS_CODING LOW None 0.92073 0.92070 0.06228 None None None None None None ACTN2|0.55570405|13.49%
View output 09_chr1 fa filtered3 1 rs1341864
dbSNP Clinvar
236882303 46.8 T C PASS 1/1 514 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.00777 None None None None None None ACTN2|0.55570405|13.49%

GSTM1

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 output 09_chr1 fa filtered3 1 rs1056806
dbSNP Clinvar
110233147 33.8 C T PASS 1/1 213 SYNONYMOUS_CODING LOW None 0.22824 0.22820 0.15911 None None None None None None GSTM2|0.013764384|78.03%,GSTM1|0.029541883|69.59%

LDLRAP1

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 output 09_chr1 fa filtered3 1 rs28969504
dbSNP Clinvar
25890189 36.6 A G PASS 0/1 771 SYNONYMOUS_CODING LOW None 0.58626 0.58630 0.36783 None None None None None None LDLRAP1|0.137087464|44.86%

PCSK9

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 output 09_chr1 fa filtered3 1 rs509504
dbSNP Clinvar
55523033 37.1 A G PASS 1/1 607 SYNONYMOUS_CODING LOW None 0.98183 0.98180 0.02030 None None None None None None PCSK9|0.022266519|73.06%

TNNT2

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 output 09_chr1 fa filtered3 1 rs3729547
dbSNP Clinvar
201334382 42.0 G A PASS 1/1 701 SYNONYMOUS_CODING LOW None 0.69509 0.69510 0.31724 None None None None None None TNNT2|0.07438752|56.44%
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