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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: 18
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

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 udp2568_axeq_1_hs37d5_remdup-uniqmap 17 rs2905846
dbSNP Clinvar 		46048592 186.0 A G . 1/1 0 MOTIF[MA0062.2:Gabp] LOW 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 udp2568_axeq_1_hs37d5_remdup-uniqmap 17 rs6502330
dbSNP Clinvar 		13972811 27.0 G A . 1/1 0 MOTIF[MA0062.2:Gabp] MODIFIER 0.99561 0.99560 None None None None None None None
View udp2568_axeq_1_hs37d5_remdup-uniqmap 11 rs72850544
dbSNP Clinvar 		9336093 38.0 C T . 0/1 0 MOTIF[MA0062.2:Gabp] LOW 0.07668 0.07668 None None None None None None TMEM41B|0.338883449|24.91%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 5 rs2305725
dbSNP Clinvar 		167913459 222.0 C A . 1/1 0 MOTIF[MA0062.2:Gabp] LOW 0.07428 0.07428 0.12460 None None None None None None RARS|0.932338874|2.73%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 17 rs2644712
dbSNP Clinvar 		767396 87.0 G C . 0/1 0 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None NXN|0.594772524|11.95%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 17 rs2644711
dbSNP Clinvar 		767395 64.0 G A . 0/1 0 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None NXN|0.594772524|11.95%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 7 rs1882655
dbSNP Clinvar 		66147057 222.0 T C . 1/1 0 MOTIF[MA0062.2:Gabp] MODIFIER 0.86681 0.86680 None None None None None None KCTD7|0.214101234|35.12%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 6 rs9295043
dbSNP Clinvar 		168476583 13.0 A G . 1/1 0 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None FRMD1|0.001331661|93.69%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 20 rs3746792
dbSNP Clinvar 		389456 57.0 C T . 0/1 0 MOTIF[MA0062.2:Gabp] LOW 0.40415 0.40420 0.45403 None None None None None None RBCK1|0.095045325|52.09%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 19 . 58920104 53.5 AC... AC... . 0/1 0 MOTIF[MA0062.2:Gabp] LOW None None None None None None ZNF584|0.001865527|91.37%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 19 rs45528635
dbSNP Clinvar 		16653249 116.0 G A . 0/1 0 MOTIF[MA0062.2:Gabp] LOW 0.09026 0.09026 None None None None None None CHERP|0.091471608|52.95%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 17 rs74504320
dbSNP Clinvar 		6554921 35.0 A G . 0/1 0 MOTIF[MA0062.2:Gabp] MODIFIER 0.04812 0.04812 0.09001 None None None None None None MED31|0.581573659|12.49%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 14 rs17552038
dbSNP Clinvar 		74416945 107.0 G C . 0/1 0 MOTIF[MA0062.2:Gabp] LOW 0.09764 0.09764 None None None None None None FAM161B|0.032647327|68.31%,COQ6|0.155475963|42.22%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 14 rs1056879
dbSNP Clinvar 		35591174 109.0 T C . 0/1 0 MOTIF[MA0062.2:Gabp] LOW 0.40635 0.40630 0.38052 None None None None None None PPP2R3C|0.414536753|19.89%,KIAA0391|0.115015231|48.33%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 12 . 50898902 9.52 G C . 0/1 0 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None DIP2B|0.298176255|27.8%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 10 rs2244396
dbSNP Clinvar 		43932479 91.0 A G . 1/1 0 MOTIF[MA0062.2:Gabp] MODIFIER 0.99601 0.99600 None None None None None None ZNF487|0.002066386|90.81%
View udp2568_axeq_1_hs37d5_remdup-uniqmap 4 rs2272745
dbSNP Clinvar 		4249974 225.0 C A . 0/1 0 MOTIF[MA0062.2:Gabp] LOW 0.46126 0.46130 None None None None None None None
View udp2568_axeq_1_hs37d5_remdup-uniqmap 2 . 9983591 214.0 AG AGG . 1/1 0 MOTIF[MA0062.2:Gabp] LOW None None None None None None TAF1B|0.089989195|53.23%
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