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: 12
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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 snps raw MG15-001 1 rs1200128
dbSNP Clinvar
169076212 1592.04 G C . 0/1 27 MOTIF[MA0024.1:E2F1] LOW None 0.11741 0.11740 0.22777 None None None None None None ATP1B1|0.11594303|48.14%
View snps raw MG15-001 3 rs4973904
dbSNP Clinvar
40498933 7505.35 A G . 1/1 75 MOTIF[MA0024.1:E2F1] LOW None 0.97085 0.97080 0.02988 None None None None None None RPL14|0.064797243|58.69%
View snps raw MG15-001 3 rs2279198
dbSNP Clinvar
124449209 154.92 A G . 0/1 5 MOTIF[MA0024.1:E2F1] LOW None 0.55911 0.55910 None None None None None None None
View snps raw MG15-001 13 rs12857529
dbSNP Clinvar
110439594 462.18 A G . 1/1 4 MOTIF[MA0024.1:E2F1] LOW None 0.95907 0.95910 None None None None None None None
View snps raw MG15-001 1 rs907187
dbSNP Clinvar
226595647 5019.9 C G . 0/1 162 MOTIF[MA0024.1:E2F1] MODIFIER None 0.19908 0.19910 0.11910 None None None None None None PARP1|0.909670584|3.25%
View snps raw MG15-001 3 rs78416326
dbSNP Clinvar
170074517 68.62 G C . 0/1 4 MOTIF[MA0024.1:E2F1] MODIFIER None 0.13299 0.13300 None None None None None None None
View snps raw MG15-001 10 rs7097367
dbSNP Clinvar
28288057 98.03 G T . 1/1 5 MOTIF[MA0024.1:E2F1] LOW None 0.26418 0.26420 None None None None None None None
View snps raw MG15-001 X . 54209741 22.25 C G LowQual 0/1 16 MOTIF[MA0024.1:E2F1] LOW None None None None None None None None
View snps raw MG15-001 3 rs17523373
dbSNP Clinvar
125802961 300.57 G A . 1/1 5 MOTIF[MA0024.1:E2F1] LOW None 0.62540 0.62540 None None None None None None SLC41A3|0.008265436|82.38%
View snps raw MG15-001 6 rs3749863
dbSNP Clinvar
45345248 191.23 A C . 1/1 3 MOTIF[MA0024.1:E2F1] LOW None 0.67891 0.67890 None None None None None None SUPT3H|0.866755707|4.33%,RUNX2|0.999847219|0.21%
View snps raw MG15-001 17 rs11651453
dbSNP Clinvar
8103695 44.61 A G LowQual 1/1 2 MOTIF[MA0024.1:E2F1] LOW None 0.10523 0.10520 None None None None None None None
View snps raw MG15-001 18 rs11663049
dbSNP Clinvar
12991393 208.58 T C . 0/1 6 MOTIF[MA0024.1:E2F1] LOW None 0.72085 0.72080 None None None None None None CEP192|0.030811627|69.03%
  • Page 1 of 1