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: 9
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 combined sample_68.variant29 6 rs9273443
dbSNP Clinvar
32627600 1845.51 G T PASS 1/1 75 MOTIF[MA0154.1:EBF] LOW None 0.54253 0.54250 None None None None None None HLA-DQB1|0.132406558|45.55%
View combined sample_68.variant29 6 rs2273094
dbSNP Clinvar
38994185 1097.72 G A PASS 0/1 71 MOTIF[MA0154.1:EBF] LOW None 0.19090 0.19090 None None None None None None DNAH8|0.998961058|0.42%
View combined sample_68.variant29 7 rs4434553
dbSNP Clinvar
100240191 1202.67 A G PASS 0/1 109 MOTIF[MA0154.1:EBF] MODIFIER None 0.30012 0.30010 None None None None None None TFR2|0.128216493|46.16%
View combined sample_68.variant29 12 rs9165,rs568533359
dbSNP Clinvar
122219787 3693.6 T C,TG PASS 0/1 114 MOTIF[MA0154.1:EBF] LOW None 0.02236 0.02236 None None None None None None TMEM120B|0.205561221|36.06%,RHOF|0.097580213|51.6%
View combined sample_68.variant29 16 rs9936468
dbSNP Clinvar
29705854 359.74 C T PASS 1/1 19 MOTIF[MA0154.1:EBF] MODIFIER None 1.00000 1.00000 None None None None None None QPRT|0.028149843|70.35%
View combined sample_68.variant29 21 rs73231264
dbSNP Clinvar
45758231 1445.03 G A PASS 0/1 85 MOTIF[MA0154.1:EBF] LOW None 0.01118 0.01118 None None None None None None C21orf2|0.021974871|73.18%
View combined sample_68.variant29 12 rs2240875
dbSNP Clinvar
6649540 894.15 A G PASS 0/1 89 MOTIF[MA0154.1:EBF] MODIFIER None 0.40555 0.40560 None None None None None None IFFO1|0.102317653|50.74%
View combined sample_68.variant29 14 rs12897921
dbSNP Clinvar
77494682 5900.22 G A PASS 1/1 208 MOTIF[MA0154.1:EBF] LOW None 0.38219 0.38220 None None None None None None IRF2BPL|0.111861784|48.88%
View combined sample_68.variant29 15 rs7179912
dbSNP Clinvar
64263854 267.2 C T PASS 0/1 22 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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