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

GPX1, HTT,
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)

Genes at Clinical Genomics Database

HTT,
HTT Huntington disease

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 4

Export to: CSV
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GPX1

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 gpp10314_20120828021333_nucseek 3 rs17838762,rs56041243
dbSNP Clinvar
49395673 5251.0 GG... G PASS 0/1 268 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.42721 None None None None None None GPX1|0.756845833|6.93%

HTT

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 gpp10314_20120828021333_nucseek 4 rs778928198
dbSNP Clinvar
3076603 5294.0 CC... C,... PASS 1/2 66 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%

MRPL18

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 gpp10314_20120828021333_nucseek 6 rs58504486,rs796468076
dbSNP Clinvar
160211645 32767.0 GGTT G PASS 1/1 681 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.66514 0.66510 0.32806 None None None None None None MRPL18|0.107055217|49.79%

NRD1

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 gpp10314_20120828021333_nucseek 1 rs35723519,rs60220085
dbSNP Clinvar
52306063 25909.0 ATCT A PASS 1/1 552 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.56170 0.56170 None None None None None None NRD1|0.347431111|24.32%
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