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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
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+ Genes 1

Genes:
EHD1,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV
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EHD1
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 mp91583 both 11 rs34740136
dbSNP Clinvar 		64622018 2123.77 G A . 0/1 172 SYNONYMOUS_CODING LOW None 0.01538 0.01538 0.01524 None None None None None None EHD1|0.303919032|27.36%
View mp91583 both 11 rs10897533
dbSNP Clinvar 		64622869 1831.77 G C . 1/1 60 SYNONYMOUS_CODING LOW None 0.69609 0.69610 0.22053 None None None None None None EHD1|0.303919032|27.36%
View mp91583 both 11 rs61738612
dbSNP Clinvar 		64627492 1500.77 G C . 0/1 100 SYNONYMOUS_CODING LOW None 0.01538 0.01538 0.01508 None None None None None None EHD1|0.303919032|27.36%
View mp91583 both 11 rs1211284
dbSNP Clinvar 		64645871 1647.77 A G . 0/1 109 SYNONYMOUS_CODING LOW None 0.64976 0.64980 0.26593 None None None None None None EHD1|0.303919032|27.36%
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