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
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 24
Number of Genes: 4

Export to: CSV
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EEF1D

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 msp09 snp 8 rs4874160
dbSNP Clinvar
144671244 663.77 C A,G PASS 1/2 20 SYNONYMOUS_CODING LOW None 0.09545 0.64260 0.20869 None None None None None None EEF1D|0.083769043|54.48%

OR51V1

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 msp09 snp 11 rs11512276
dbSNP Clinvar
5221645 1561.77 C A,G PASS 1/2 47 NON_SYNONYMOUS_CODING MODERATE None 0.27995 0.32090 0.40160 0.10 0.98 None None None None None None OR51V1|0.004653668|86.28%

PRIM2

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 msp09 snp 6 rs77436138
dbSNP Clinvar
57398226 1321.77 T G,A PASS 1/2 77 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None PRIM2|0.188824743|37.96%

TRBV7-6

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 msp09 snp 7 rs73742284
dbSNP Clinvar
142139348 2176.77 C T,A PASS 1/2 60 NON_SYNONYMOUS_CODING MODERATE None 0.99241 0.99240 0.00788 0.33 0.00 None None None None None None None
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 msp09 snp 7 rs2255820
dbSNP Clinvar
83029639 461.77 A C,T PASS 1/2 15 None None None 0.26458 0.26460 None None None None None None SEMA3E|0.36164343|23.33%
View msp09 snp 18 rs8096115
dbSNP Clinvar
3112096 388.77 G A,T PASS 1/2 12 None None None 0.34884 0.34880 None None None None None None MYOM1|0.167204206|40.63%
View msp09 snp 3 rs295452
dbSNP Clinvar
47378467 380.77 A G,T PASS 1/2 12 None None None 0.47624 0.47620 None None None None None None KLHL18|0.213393899|35.18%
View msp09 snp 19 rs10423289
dbSNP Clinvar
47548327 652.77 A C,T PASS 1/2 20 None None None 0.87580 0.87580 None None None None None None NPAS1|0.050860776|62.41%
View msp09 snp 5 rs383985
dbSNP Clinvar
180055862 353.77 T C,G PASS 1/2 11 None None None 0.05371 0.05371 0.41372 None None None None None None FLT4|0.206670635|35.92%
View msp09 snp 6 rs5001484
dbSNP Clinvar
57512711 1100.77 G A,C PASS 1/2 84 None None None None None None None None None PRIM2|0.188824743|37.96%
View msp09 snp 3 rs4974160
dbSNP Clinvar
56026034 871.77 C G,T PASS 1/2 27 None None None 0.19449 0.19450 0.20279 None None None None None None ERC2|0.996551916|0.71%
View msp09 snp 7 rs13308199
dbSNP Clinvar
128315588 1521.77 T A,C PASS 1/2 46 None None None 0.21366 0.21370 None None None None None None FAM71F2|0.01865689|74.89%
View msp09 snp 12 rs10783226
dbSNP Clinvar
48398350 252.77 C A,G PASS 1/2 8 None None None None None None None None None None
View msp09 snp 15 rs2291982
dbSNP Clinvar
70350457 246.77 C A,G PASS 1/2 8 None None None 0.15196 0.15200 0.33948 None None None None None None TLE3|0.401998175|20.63%
View msp09 snp 16 rs3743842
dbSNP Clinvar
5058791 250.77 A C,G PASS 1/2 9 None None None 0.18291 0.18290 None None None None None None SEC14L5|0.039278315|66.01%
View msp09 snp 19 rs11084110
dbSNP Clinvar
52220077 221.77 C G,T PASS 1/2 8 None None None 0.05491 0.05491 None None None None None None HAS1|0.18273667|38.7%
View msp09 snp 2 rs2278786
dbSNP Clinvar
46203796 873.77 G A,C PASS 1/2 28 None None None 0.18151 0.18150 None None None None None None PRKCE|0.82710928|5.17%
View msp09 snp 7 rs692625
dbSNP Clinvar
129125750 1592.77 G A,T PASS 1/2 48 None None None 0.11042 0.11040 None None None None None None STRIP2|0.363989761|23.15%
View msp09 snp 10 rs11101751
dbSNP Clinvar
134884755 620.77 C A,G PASS 1/2 20 None None None 0.11562 0.11560 None None None None None None ADGRA1|0.014136068|77.77%
View msp09 snp 12 rs56110511
dbSNP Clinvar
1969505 239.77 G A,C PASS 1/2 8 None None None 0.32588 0.32590 None None None None None None CACNA2D4|0.041118037|65.41%
View msp09 snp 16 rs11248947
dbSNP Clinvar
781787 474.77 C G,T PASS 1/2 15 None None None 0.10184 0.42130 None None None None None None HAGHL|0.005094626|85.69%,NARFL|0.018858569|74.74%
View msp09 snp 17 rs2642157
dbSNP Clinvar
7630295 489.77 G A,T PASS 1/2 15 None None None 0.14477 0.48000 None None None None None None DNAH2|0.156733349|42.06%
View msp09 snp 1 rs209605
dbSNP Clinvar
40879808 1963.77 G C,T PASS 1/2 63 None None None 0.10463 0.10460 0.05767 None None None None None None SMAP2|0.44905213|18.19%
View msp09 snp 20 rs2554494
dbSNP Clinvar
29633916 405.77 G T,A PASS 1/2 15 None None None None None None None None None FRG1B|0.009509512|81.26%
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