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:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 0

Export to: CSV
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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 5840_s17 9 rs3217992
dbSNP Clinvar
22003223 22716.01 C T PASS 1/1 1008 None None None 0.34824 0.34820 None None None None None None None
View 5840_s17 9 rs3217991,rs34503303
dbSNP Clinvar
22003298 20092.0 C CA PASS 1/1 807 None None None 0.35224 0.35220 None None None None None None None
View 5840_s17 9 rs1063192
dbSNP Clinvar
22003367 15146.01 G A PASS 1/1 665 None None None 0.79473 0.79470 None None None None None None None
View 5840_s17 9 . 22005111 71541.0 AT... AT... PASS 1/2 1468 None None None None None None None None None None
View 5840_s17 9 rs1050700
dbSNP Clinvar
135767943 17170.01 C T PASS 0/1 1842 None None None 0.72584 0.72580 None None None None None None TSC1|0.596037841|11.9%
View 5840_s17 9 rs10491534
dbSNP Clinvar
135769688 9539.01 T C PASS 0/1 1041 None None None 0.12620 0.12620 None None None None None None TSC1|0.596037841|11.9%
View 5840_s17 9 . 135770080 4406.0 TAAA T LowVariantFreq;R8 0/1 496 None None None None None None None None None TSC1|0.596037841|11.9%
View 5840_s17 9 rs739441
dbSNP Clinvar
135770115 11926.01 C T PASS 1/1 417 None None None 0.77336 0.77340 None None None None None None TSC1|0.596037841|11.9%
View 5840_s17 9 rs739442
dbSNP Clinvar
135770134 4491.01 G A PASS 0/1 501 None None None 0.45068 0.45070 None None None None None None TSC1|0.596037841|11.9%
View 5840_s17 9 rs2809243
dbSNP Clinvar
135770300 13619.01 G A PASS 0/1 1325 None None None 0.55212 0.55210 None None None None None None TSC1|0.596037841|11.9%
View 5840_s17 9 rs2809244
dbSNP Clinvar
135770347 34770.01 A C PASS 1/1 1526 None None None 0.74820 0.74820 None None None None None None TSC1|0.596037841|11.9%
View 5840_s17 9 rs11323835
dbSNP Clinvar
135771332 26564.0 GA G PASS 0/1 1592 None None None 0.43910 0.43910 None None None None None None TSC1|0.596037841|11.9%
View 5840_s17 9 rs5901000
dbSNP Clinvar
135773000 216.97 G GA LowVariantFreq;R8 0/1 315 None None None 0.00379 None None None None None None TSC1|0.596037841|11.9%
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