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 at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 28
Number of Genes: 1

Export to: CSV

CDK5RAP3

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 mm170241ct 17 rs2905846
dbSNP
46048592 220.77 A G . 0/1 17 MOTIF[MA0062.2:Gabp] LOW 0.69149 0.69150 0.30004 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 mm170241ct 20 rs2281282
dbSNP
49575334 1043.77 A C . 1/1 31 MOTIF[MA0062.2:Gabp] MODIFIER 0.52796 0.52800 0.42189 None None None None None None None
View mm170241ct 20 rs3746792
dbSNP
389456 883.77 C T . 1/1 24 MOTIF[MA0062.2:Gabp] LOW 0.40415 0.40420 0.45403 None None None None None None None
View mm170241ct 17 . 62207548 11.12 G A LowQual 0/1 3 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None
View mm170241ct 17 rs6502330
dbSNP
13972811 204.84 G A . 1/1 6 MOTIF[MA0062.2:Gabp] MODIFIER 0.99561 0.99560 None None None None None None None
View mm170241ct 17 rs2644712
dbSNP
767396 48.77 G C . 0/1 56 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None
View mm170241ct 17 rs2644711
dbSNP
767395 56.77 G A . 0/1 58 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None
View mm170241ct 17 rs615149
dbSNP
767363 193.77 C G . 0/1 77 MOTIF[MA0062.2:Gabp] LOW 0.31210 0.31210 None None None None None None None
View mm170241ct 17 rs615148
dbSNP
767362 176.77 A G . 0/1 78 MOTIF[MA0062.2:Gabp] MODIFIER 0.31210 0.31210 None None None None None None None
View mm170241ct 17 rs781297738
dbSNP
767330 20.8 G C LowQual 0/1 76 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None
View mm170241ct 16 rs12449272
dbSNP
28962755 21.8 G A LowQual 0/1 5 MOTIF[MA0062.2:Gabp] MODIFIER 0.19109 0.19110 0.16739 None None None None None None None
View mm170241ct 14 rs1056879
dbSNP
35591174 1219.77 T C . 0/1 79 MOTIF[MA0062.2:Gabp] LOW 0.40635 0.40630 0.38052 None None None None None None None
View mm170241ct 11 rs2156785
dbSNP
77850824 12.77 C T LowQual 1/1 1 MOTIF[MA0062.2:Gabp] LOW 0.31909 0.31910 None None None None None None None
View mm170241ct 11 rs72850544
dbSNP
9336093 179.77 C T . 0/1 11 MOTIF[MA0062.2:Gabp] LOW 0.07668 0.07668 None None None None None None None
View mm170241ct 11 rs71487219
dbSNP
207400 128.03 A G . 1/1 4 MOTIF[MA0062.2:Gabp] MODIFIER 0.59265 0.59270 None None None None None None None
View mm170241ct 10 rs2244396
dbSNP
43932479 228.8 A G . 1/1 7 MOTIF[MA0062.2:Gabp] MODIFIER 0.99601 0.99600 None None None None None None None
View mm170241ct 9 rs4400498
dbSNP
139305007 35.77 C T . 0/1 6 MOTIF[MA0062.2:Gabp] LOW 0.21046 0.21050 None None None None None None None
View mm170241ct 9 rs112086410
dbSNP
131591894 148.77 G C . 0/1 12 MOTIF[MA0062.2:Gabp] MODIFIER 0.08586 0.08586 None None None None None None None
View mm170241ct 7 rs1882655
dbSNP
66147057 411.77 T C . 1/1 13 MOTIF[MA0062.2:Gabp] MODIFIER 0.86681 0.86680 None None None None None None None
View mm170241ct 5 rs2305725
dbSNP
167913459 339.77 C A . 0/1 27 MOTIF[MA0062.2:Gabp] LOW 0.07428 0.07428 0.12460 None None None None None None None
View mm170241ct 5 rs4565199
dbSNP
149737221 88.28 T G . 1/1 4 MOTIF[MA0062.2:Gabp] MODIFIER 0.99940 0.99940 None None None None None None None
View mm170241ct 5 rs2607301
dbSNP
10250047 217.77 C A . 0/1 16 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None
View mm170241ct 4 rs2272745
dbSNP
4249974 395.77 C A . 0/1 29 MOTIF[MA0062.2:Gabp] LOW 0.46126 0.46130 None None None None None None None
View mm170241ct 2 rs35818430
dbSNP
9983591 1168.73 A AG . 1/1 30 MOTIF[MA0062.2:Gabp] LOW 0.00200 0.99800 0.00260 None None None None None None None
View mm170241ct 1 rs1010167
dbSNP
110198727 12.77 C G LowQual 1/1 1 MOTIF[MA0062.2:Gabp] LOW 0.42133 0.42130 None None None None None None None
View mm170241ct 1 rs2251098
dbSNP
3566706 185.84 G A . 1/1 6 MOTIF[MA0062.2:Gabp] MODIFIER 0.70727 0.70730 None None None None None None None
View mm170241ct 22 rs11705639
dbSNP
30831852 58.77 G A . 0/1 7 MOTIF[MA0062.2:Gabp] MODIFIER 0.24621 0.24620 None None None None None None None
View mm170241ct 1 rs2748975
dbSNP
1886519 278.78 C A . 1/1 8 MOTIF[MA0062.2:Gabp] MODIFIER 0.60743 0.60740 None None None None None None None