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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
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 GROUPS:

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OMIM:
CLINICAL GENOMICS DATABASE:
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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

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
ACTN3,

+ Genes associated with diseases 1

Genes at Omim

ACTN3,
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
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ACTN3
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 el-exome_s1 11 rs1671064
dbSNP Clinvar 		66327673 1036.22 G A PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.58646 0.58650 0.36660 1.00 0.00 None None None None None None None
View el-exome_s1 11 rs2229455
dbSNP Clinvar 		66328055 108.07 A G PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.16274 0.16270 0.15931 None None None None None None None
View el-exome_s1 11 rs1815739
dbSNP Clinvar 		66328095 901.7 T C PASS 1/1 41 STOP_LOST HIGH None 0.59924 0.59920 0.35908 None None None None None None None
View el-exome_s1 11 rs618838
dbSNP Clinvar 		66328719 325.18 T C LowGQ;LowGQX 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.60024 0.60020 0.36450 1.00 0.00 None None None None None None None
View el-exome_s1 11 rs2229456
dbSNP Clinvar 		66328741 238.24 A C PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.16274 0.16270 0.15644 0.00 0.99 None None None None None None None
View el-exome_s1 11 rs77239910
dbSNP Clinvar 		66329639 312.73 G A PASS 0/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.08047 0.08047 0.11645 None None None None None None None
View el-exome_s1 11 rs540874
dbSNP Clinvar 		66329732 2924.96 A G PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.37179 1.00 0.00 None None None None None None None
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