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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 2

Genes:
IFT74, KIF27,

+ Genes associated with diseases 1

Genes at Omim

IFT74,
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

IFT74
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 20160-02-01_s15-kopie 9 rs3429
dbSNP Clinvar 		27062721 1029.65 C T PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10523 0.10520 0.10377 0.02 0.11 None None None None None None IFT74|0.368880838|22.78%

KIF27
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 20160-02-01_s15-kopie 9 rs12001918
dbSNP Clinvar 		86518796 9371.23 T C PASS 0/1 833 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12081 0.12080 0.14032 0.55 0.75 None None None None None None KIF27|0.224927023|33.89%
View 20160-02-01_s15-kopie 9 rs55654273
dbSNP Clinvar 		86474115 7507.08 T C PASS 0/1 629 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12081 0.12080 0.14027 0.12 0.00 None None None None None None KIF27|0.224927023|33.89%
View 20160-02-01_s15-kopie 9 rs295274
dbSNP Clinvar 		86468715 12311.46 A T PASS 1/1 485 SYNONYMOUS_CODING LOW SILENT 0.65316 0.65320 0.30409 None None None None None None KIF27|0.224927023|33.89%
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 20160-02-01_s15-kopie 9 rs12682834
dbSNP Clinvar 		90062823 3026.74 A G PASS 0/1 465 None None None 0.63678 0.63680 0.42327 None None None None None None None
View 20160-02-01_s15-kopie 9 rs774904497
dbSNP Clinvar 		27062802 150.98 CA C LowVariantFreq;R8 0/1 121 None None None None None None None None None IFT74|0.368880838|22.78%
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