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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:

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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:
DSG4,

+ Genes associated with diseases 1

Genes at Omim

DSG4,
DSG4 Hypotrichosis 6, 607903 (3)

Genes at Clinical Genomics Database

DSG4,
DSG4 Hypotrichosis 6

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV
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DSG4
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 32 18 rs7234288
dbSNP Clinvar 		28993501 429.77 C A . 0/1 34 SYNONYMOUS_CODING LOW None 0.74321 0.74320 0.27807 None None None None None None DSG4|0.119999576|47.44%
View 32 18 rs4799570
dbSNP Clinvar 		28986333 296.77 A C . 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.96586 0.96590 0.07566 1.00 0.00 None None None None None None DSG4|0.119999576|47.44%
View 32 18 rs9956865
dbSNP Clinvar 		28968959 373.77 C T . 0/1 41 SYNONYMOUS_CODING LOW None 0.80491 0.80490 0.22124 None None None None None None DSG4|0.119999576|47.44%
View 32 18 rs16959856
dbSNP Clinvar 		28968371 465.77 G A . 0/1 49 SYNONYMOUS_CODING LOW None 0.72065 0.72060 0.30568 None None None None None None DSG4|0.119999576|47.44%
View 32 18 rs36101975
dbSNP Clinvar 		28956904 1203.77 C T . 0/1 116 SYNONYMOUS_CODING LOW None 0.12161 0.12160 0.14124 None None None None None None DSG4|0.119999576|47.44%
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