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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:

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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
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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:
PLEKHG6,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

PLEKHG6
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 p0085_filtered 12 rs116760352
dbSNP Clinvar 		6422337 2503.77 G A PASS 0/1 0 MOTIF[MA0154.1:EBF] LOW None 0.00379 0.00419 None None None None None None PLEKHG6|0.021055929|73.65%
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 p0085_filtered 12 rs2240875
dbSNP Clinvar 		6649540 451.77 A G VQSRTrancheSNP90.00to99.00 0/1 0 MOTIF[MA0154.1:EBF] MODIFIER None 0.40555 0.40560 None None None None None None IFFO1|0.102317653|50.74%
View p0085_filtered 12 rs9165
dbSNP Clinvar 		122219787 410.77 T C PASS 0/1 0 MOTIF[MA0154.1:EBF] MODIFIER None 0.02236 0.54770 None None None None None None TMEM120B|0.205561221|36.06%,RHOF|0.097580213|51.6%
View p0085_filtered 14 rs12897921
dbSNP Clinvar 		77494682 1223.77 G A VQSRTrancheSNP90.00to99.00 0/1 0 MOTIF[MA0154.1:EBF] LOW None 0.38219 0.38220 None None None None None None IRF2BPL|0.111861784|48.88%
View p0085_filtered 17 rs2613520
dbSNP Clinvar 		76117570 149.77 G C VQSRTrancheSNP90.00to99.00 0/1 0 MOTIF[MA0154.1:EBF] LOW None 0.24820 0.24820 None None None None None None TMC6|0.012286436|79.04%
View p0085_filtered 19 . 1041053 222.77 G A PASS 0/1 0 MOTIF[MA0154.1:EBF] MODIFIER None None None None None None None ABCA7|0.007770288|82.8%
View p0085_filtered 15 rs7179912
dbSNP Clinvar 		64263854 349.77 C T PASS 0/1 0 MOTIF[MA0154.1:EBF] MODIFIER None 0.24101 0.24100 None None None None None None DAPK2|0.301329146|27.56%
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