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

COL6A1,
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)

Genes at Clinical Genomics Database

COL6A1,
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1

Genes at HGMD

Summary

Number of Variants: 26
Number of Genes: 1

Export to: CSV
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COL6A1

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 6426_s21 21 rs1053315
dbSNP Clinvar
47423507 100.0 G A PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.26817 0.26820 0.33726 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs1053312
dbSNP Clinvar
47423389 100.0 G A PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.27017 0.27020 0.33961 0.11 0.00 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs1980982
dbSNP Clinvar
47410931 100.0 T C PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.54493 0.54490 0.37606 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs1053320
dbSNP Clinvar
47423636 100.0 C T PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.32713 None None None None None None COL6A1|0.085741402|53.99%
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 6426_s21 21 rs7276782
dbSNP Clinvar
47420769 100.0 A G PASS 1/1 82 None None None 0.86741 0.86740 0.13951 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs7276098
dbSNP Clinvar
47420726 100.0 C G PASS 1/1 80 None None None 0.03614 0.83030 0.13332 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs13053065
dbSNP Clinvar
47420723 100.0 G C PASS 1/1 78 None None None 0.26597 0.26600 0.33608 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs4819179
dbSNP Clinvar
47419012 100.0 C T PASS 1/1 94 None None None 0.28934 0.28930 0.34181 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs141212516,rs386394882,rs377432980,rs386365935
dbSNP Clinvar
47418728 100.0 C CT PASS 1/1 20 None None None 0.86142 0.86140 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs2276255
dbSNP Clinvar
47417578 100.0 A G PASS 1/1 91 None None None 0.28714 0.28710 0.35836 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs3216137
dbSNP Clinvar
47417432 100.0 A AG PASS 0/1 26 None None None 0.72205 0.72200 0.27693 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs2850174
dbSNP Clinvar
47413929 100.0 G T PASS 1/1 25 None None None None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs2850173
dbSNP Clinvar
47412751 100.0 A C PASS 1/1 120 None None None 0.87141 0.87140 0.12096 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs111649307
dbSNP Clinvar
47410411 100.0 G A PASS 1/1 43 None None None 0.47185 0.47180 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs371490467
dbSNP Clinvar
47410404 100.0 A G PASS 1/1 45 None None None 0.47664 0.47660 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs201910945
dbSNP Clinvar
47410401 100.0 C T PASS 1/1 42 None None None 0.47784 0.47780 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs867427345
dbSNP Clinvar
47410391 100.0 T C PASS 1/1 46 None None None None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs398123629
dbSNP Clinvar
47410378 100.0 GA... G PASS 1/1 48 None None None 0.45328 0.45330 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs2277814
dbSNP Clinvar
47409503 100.0 A G PASS 1/1 80 None None None 0.87680 0.87680 0.13706 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs62215498
dbSNP Clinvar
47407362 100.0 C T PASS 0/1 89 None None None 0.33946 0.33950 0.33508 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs754507
dbSNP Clinvar
47406612 100.0 C A PASS 0/1 42 None None None 0.69589 0.69590 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs111710378
dbSNP Clinvar
47406610 100.0 G GC PASS 0/1 42 None None None 0.12360 0.12360 0.08448 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs3746993
dbSNP Clinvar
47404397 100.0 A G PASS 1/1 29 None None None 0.88039 0.88040 0.13682 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs2236489
dbSNP Clinvar
47423133 100.0 C G PASS 1/1 96 None None None 0.00539 0.82030 0.17981 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs2236485
dbSNP Clinvar
47422639 100.0 A G PASS 1/1 47 None None None 0.87420 0.87420 0.11937 None None None None None None COL6A1|0.085741402|53.99%
View 6426_s21 21 rs7276374
dbSNP Clinvar
47420866 100.0 C T PASS 1/1 81 None None None 0.86582 0.86580 None None None None None None COL6A1|0.085741402|53.99%
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