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 GROUPS:

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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
CDK5RAP3,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 1

Export to: CSV
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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 sm006-1 both 17 rs2905846
dbSNP Clinvar 		46048592 1013.77 A G . 0/1 56 MOTIF[MA0062.2:Gabp] LOW None 0.69149 0.69150 0.30004 0.00 None None None None None None CDK5RAP3|0.244591627|32.06%
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 sm006-1 both 1 rs839752
dbSNP Clinvar 		43855546 988.77 A G . 0/1 81 MOTIF[MA0062.2:Gabp] MODIFIER None 0.22804 0.22800 None None None None None None None
View sm006-1 both 2 rs35818430
dbSNP Clinvar 		9983591 1362.73 A AG . 1/1 35 MOTIF[MA0062.2:Gabp] LOW None 0.00200 0.99800 0.00260 None None None None None None TAF1B|0.089989195|53.23%
View sm006-1 both 5 rs2305725
dbSNP Clinvar 		167913459 1002.77 C A . 0/1 68 MOTIF[MA0062.2:Gabp] LOW None 0.07428 0.07428 0.12460 None None None None None None RARS|0.932338874|2.73%
View sm006-1 both 7 rs1882655
dbSNP Clinvar 		66147057 327.77 T C . 0/1 31 MOTIF[MA0062.2:Gabp] MODIFIER None 0.86681 0.86680 None None None None None None KCTD7|0.214101234|35.12%
View sm006-1 both 11 rs71487219
dbSNP Clinvar 		207400 349.77 A G . 0/1 27 MOTIF[MA0062.2:Gabp] MODIFIER None 0.59265 0.59270 None None None None None None None
View sm006-1 both 9 rs28365780
dbSNP Clinvar 		91933352 365.77 C T . 0/1 35 MOTIF[MA0062.2:Gabp] LOW None 0.00300 0.00300 None None None None None None None
View sm006-1 both 14 rs1056879
dbSNP Clinvar 		35591174 2323.77 T C . 0/1 164 MOTIF[MA0062.2:Gabp] LOW None 0.40635 0.40630 0.38052 None None None None None None PPP2R3C|0.414536753|19.89%,KIAA0391|0.115015231|48.33%
View sm006-1 both 20 rs3746792
dbSNP Clinvar 		389456 2354.77 C T . 1/1 69 MOTIF[MA0062.2:Gabp] LOW None 0.40415 0.40420 0.45403 None None None None None None RBCK1|0.095045325|52.09%
View sm006-1 both 2 rs2286324
dbSNP Clinvar 		242041728 910.77 G A . 0/1 75 MOTIF[MA0062.2:Gabp] MODIFIER None 0.11122 0.11120 0.07043 None None None None None None MTERF4|0.001728081|91.76%
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