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

MYLK,
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)

Genes at Clinical Genomics Database

MYLK,
MYLK Aortic aneurysm, familial thoracic 7

Genes at HGMD

Summary

Number of Variants: 18
Number of Genes: 2

Export to: CSV
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LRRN1

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 2761_s29 3 rs9844909
dbSNP Clinvar
3887093 100.0 A G PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.25200 0.25200 0.20094 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 2761_s29 3 rs4685689
dbSNP Clinvar
3886580 100.0 A G PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.98682 0.98680 0.01776 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 2761_s29 3 rs2120609
dbSNP Clinvar
3887876 100.0 T C PASS 1/1 22 SYNONYMOUS_CODING LOW None 0.47844 0.47840 0.36891 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%

MYLK

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 2761_s29 3 rs9833275
dbSNP Clinvar
123451773 100.0 G C PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00138 1.00 0.00 None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs753402124
dbSNP Clinvar
123456255 100.0 C T PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.91 None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs9840993
dbSNP Clinvar
123457893 100.0 G A PASS 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.85623 0.85620 0.12756 0.09 0.05 None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs40305
dbSNP Clinvar
123411589 100.0 G A PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.43665 None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs4678047
dbSNP Clinvar
123452838 100.0 G A PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.63279 0.63280 0.42565 None None None None None None MYLK|0.503223171|15.7%
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 2761_s29 3 rs3729926
dbSNP Clinvar
12660291 100.0 C T PASS 0/1 99 None None None 0.91254 0.91250 None None None None None None RAF1|0.540744918|14.17%
View 2761_s29 3 rs3729931
dbSNP Clinvar
12626516 100.0 G A PASS 0/1 45 None None None 0.36462 0.36460 0.44241 None None None None None None RAF1|0.540744918|14.17%
View 2761_s29 3 rs3749351
dbSNP Clinvar
3886180 100.0 T C PASS 1/1 34 START_GAINED LOW None 0.69768 0.69770 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 2761_s29 3 rs2198766
dbSNP Clinvar
123457711 100.0 C A PASS 1/1 35 None None None 0.92951 0.92950 0.07996 None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs2168439
dbSNP Clinvar
123456432 100.0 C T PASS 1/1 137 None None None 0.93850 0.93850 0.07051 None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs820355
dbSNP Clinvar
123440967 100.0 G A PASS 1/1 51 None None None 0.91354 0.91350 0.09120 None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs41271433
dbSNP Clinvar
123385217 100.0 G A PASS 0/1 82 None None None 0.00739 0.00739 0.01722 None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs145892968
dbSNP Clinvar
123357098 100.0 C G PASS 0/1 36 None None None 0.01038 0.01038 None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs915106708
dbSNP Clinvar
123338956 42.0 TA T R5x9 0/1 20 None None None None None None None None None MYLK|0.503223171|15.7%
View 2761_s29 3 rs796095304,rs35930843
dbSNP Clinvar
123332875 46.0 GT G R5x9 0/1 16 None None None None None None None None None MYLK|0.503223171|15.7%
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