+ Filter Options

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 1

Genes:
SMARCAD1,

+ Genes associated with diseases 1

Genes at Omim

SMARCAD1,
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)

Genes at Clinical Genomics Database

SMARCAD1,
SMARCAD1 Adermatoglyphia

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

SMARCAD1
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 fam3 AWJ 4 rs11722476
dbSNP Clinvar 		95170839 1077.41 G A PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.46146 0.46150 0.34036 0.49 0.00 None None None None None None SMARCAD1|0.584402799|12.39%
View fam3 AWJ 4 rs7439869
dbSNP Clinvar 		95173779 292.03 T C PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.73063 0.73060 0.29806 0.88 0.00 None None None None None None SMARCAD1|0.584402799|12.39%
View fam3 AWJ 4 rs2306802
dbSNP Clinvar 		95186055 882.28 A G PASS 1/1 93 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33526 0.33530 0.29323 None None None None None None SMARCAD1|0.584402799|12.39%
View fam3 AWJ 4 rs6823404
dbSNP Clinvar 		95197520 1213.61 C T PASS 1/1 129 SYNONYMOUS_CODING LOW None 0.55711 0.55710 0.48816 None None None None None None SMARCAD1|0.584402799|12.39%
  • Page 1 of 1