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

COL4A2,
COL4A2 Brain small vessel disease 2, 614483 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)

Genes at Clinical Genomics Database

COL4A2,
COL4A2 Hemorrhage, intracerebral, susceptibility to

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 1

Export to: CSV
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COL4A2

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 6424_s25 13 rs445348
dbSNP Clinvar
111158874 100.0 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs4771683
dbSNP Clinvar
111156499 100.0 C T PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs438758
dbSNP Clinvar
111155773 100.0 T C PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs409858
dbSNP Clinvar
111154061 100.0 T C PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs439831
dbSNP Clinvar
111154058 100.0 T A PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs3803230
dbSNP Clinvar
111119396 100.0 G C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.10383 0.10380 0.10350 0.46 0.01 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs7990383
dbSNP Clinvar
111111235 100.0 G A PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.50919 0.50920 0.36542 0.99 0.00 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs7990214
dbSNP Clinvar
111111173 100.0 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs4238272
dbSNP Clinvar
111077197 100.0 G A PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
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