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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: 46
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 combined sample_64.variant26 17 rs2905846
dbSNP Clinvar 		46048592 4920.51 A G PASS 1/1 160 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 combined sample_64.variant26 1 rs1010167
dbSNP Clinvar 		110198727 738.74 C G PASS 0/1 100 MOTIF[MA0062.2:Gabp] LOW None 0.42133 0.42130 None None None None None None GSTM4|0.014282259|77.63%
View combined sample_64.variant26 1 rs33943525
dbSNP Clinvar 		144932196 5067.21 TT... T PASS 0/1 246 MOTIF[MA0062.2:Gabp] LOW None None None None None None None PDE4DIP|0.07469644|56.36%
View combined sample_64.variant26 2 rs35818430
dbSNP Clinvar 		9983591 4401.86 A AG PASS 1/1 146 MOTIF[MA0062.2:Gabp] LOW None 0.00200 0.99800 0.00260 None None None None None None TAF1B|0.089989195|53.23%
View combined sample_64.variant26 4 rs70953714,rs397995633
dbSNP Clinvar 		144106031 604.03 T TC PASS 1/1 33 MOTIF[MA0062.2:Gabp] LOW None 0.99980 0.99980 None None None None None None None
View combined sample_64.variant26 5 rs2607301
dbSNP Clinvar 		10250047 202.73 C A PASS 1/1 15 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None CCT5|0.365250197|23.05%
View combined sample_64.variant26 5 rs2305725
dbSNP Clinvar 		167913459 1980.75 C A PASS 0/1 220 MOTIF[MA0062.2:Gabp] LOW None 0.07428 0.07428 0.12460 None None None None None None RARS|0.932338874|2.73%
View combined sample_64.variant26 6 rs386713
dbSNP Clinvar 		2842139 1572.08 C T PASS 1/1 69 MOTIF[MA0062.2:Gabp] MODIFIER None 0.70288 0.70290 None None None None None None SERPINB1|0.214322052|35.07%
View combined sample_64.variant26 6 rs465483
dbSNP Clinvar 		80714233 1302.6 G T PASS 1/1 98 MOTIF[MA0062.2:Gabp] MODIFIER None 0.51957 0.51960 None None None None None None TTK|0.52194607|14.89%
View combined sample_64.variant26 6 rs72975559
dbSNP Clinvar 		136610872 76.8 C A PASS 0/1 101 MOTIF[MA0062.2:Gabp] LOW None None None None None None None BCLAF1|0.862204176|4.44%
View combined sample_64.variant26 7 rs1882655
dbSNP Clinvar 		66147057 4039.03 T C PASS 1/1 185 MOTIF[MA0062.2:Gabp] MODIFIER None 0.86681 0.86680 None None None None None None KCTD7|0.214101234|35.12%
View combined sample_64.variant26 7 rs2242029
dbSNP Clinvar 		128695279 185.28 A G PASS 1/1 8 MOTIF[MA0062.2:Gabp] MODIFIER None 0.71326 0.71330 None None None None None None None
View combined sample_64.variant26 7 rs243549
dbSNP Clinvar 		148395672 401.85 A C PASS 0/1 17 MOTIF[MA0062.2:Gabp] LOW None 0.55751 0.55750 None None None None None None CUL1|0.867334081|4.3%
View combined sample_64.variant26 8 rs11785995
dbSNP Clinvar 		130952111 551.64 G A PASS 0/1 51 MOTIF[MA0062.2:Gabp] MODIFIER None 0.03255 0.03255 None None None None None None FAM49B|0.747053838|7.17%
View combined sample_64.variant26 11 rs71487219
dbSNP Clinvar 		207400 779.78 A G PASS 1/1 46 MOTIF[MA0062.2:Gabp] MODIFIER None 0.59265 0.59270 None None None None None None BET1L|0.043373074|64.7%
View combined sample_64.variant26 11 rs734094
dbSNP Clinvar 		2323220 1104.37 G A PASS 0/1 122 MOTIF[MA0062.2:Gabp] LOW None 0.36582 0.36580 None None None None None None C11orf21|0.000478003|98.55%
View combined sample_64.variant26 11 rs3808985
dbSNP Clinvar 		33183073 425.42 G A PASS 0/1 51 MOTIF[MA0062.2:Gabp] LOW None 0.08087 0.08087 None None None None None None CSTF3|0.816291076|5.41%
View combined sample_64.variant26 11 rs2156785
dbSNP Clinvar 		77850824 275.67 C T,G PASS 0/1 16 MOTIF[MA0062.2:Gabp] LOW None 0.31909 0.31910 None None None None None None None
View combined sample_64.variant26 13 rs7321688
dbSNP Clinvar 		115000365 1490.75 C A PASS 0/1 44 MOTIF[MA0062.2:Gabp] MODIFIER None 0.31530 0.31530 None None None None None None CDC16|0.574269029|12.84%
View combined sample_64.variant26 14 rs2277459
dbSNP Clinvar 		35761592 477.48 G A PASS 0/1 45 MOTIF[MA0062.2:Gabp] LOW None 0.18510 0.18510 None None None None None None PSMA6|0.746081433|7.19%
View combined sample_64.variant26 17 rs6502330
dbSNP Clinvar 		13972811 1700.92 G A PASS 1/1 64 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99561 0.99560 None None None None None None None
View combined sample_64.variant26 17 rs61576918
dbSNP Clinvar 		46985593 262.07 A C PASS 1/1 22 MOTIF[MA0062.2:Gabp] MODIFIER None 0.42412 0.42410 None None None None None None None
View combined sample_64.variant26 17 rs28362566
dbSNP Clinvar 		61904465 1081.89 C CG PASS 1/1 87 MOTIF[MA0062.2:Gabp] LOW None None None None None None None FTSJ3|0.293942653|28.12%
View combined sample_64.variant26 19 rs188942745
dbSNP Clinvar 		9785788 775.38 C T PASS 0/1 64 MOTIF[MA0062.2:Gabp] LOW None 0.00180 0.00180 None None None None None None None
View combined sample_64.variant26 19 rs57524957,rs397960643
dbSNP Clinvar 		37157556 902.31 T TC PASS 1/1 43 MOTIF[MA0062.2:Gabp] LOW None None None None None None None ZNF461|0.014850273|77.24%
View combined sample_64.variant26 19 rs11083420
dbSNP Clinvar 		37808803 720.27 G A PASS 0/1 129 MOTIF[MA0062.2:Gabp] MODIFIER None 0.25959 0.25960 None None None None None None HKR1|0.006465784|84.1%
View combined sample_64.variant26 1 rs150737039,rs70949599
dbSNP Clinvar 		1510035 1281.93 GGC G PASS 0/1 64 MOTIF[MA0062.2:Gabp] LOW None 0.66893 0.66890 None None None None None None SSU72|0.02945874|69.63%
View combined sample_64.variant26 22 rs3213558
dbSNP Clinvar 		26908433 1186.6 C T PASS 0/1 144 MOTIF[MA0062.2:Gabp] LOW None 0.19070 0.19070 None None None None None None TFIP11|0.097505251|51.64%
View combined sample_64.variant26 16 rs11645912
dbSNP Clinvar 		89284082 2020.25 C A PASS 1/1 34 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99221 0.99220 None None None None None None None
View combined sample_64.variant26 16 rs3803723
dbSNP Clinvar 		89284083 2020.25 C G PASS 1/1 34 MOTIF[MA0062.2:Gabp] MODIFIER None 0.77137 0.77140 None None None None None None None
View combined sample_64.variant26 18 rs11269420,rs775963864,rs761008644,rs57564978
dbSNP Clinvar 		47901293 1266.09 A AG... PASS 1/1 21 MOTIF[MA0062.2:Gabp] LOW None 0.99481 0.99480 None None None None None None None
View combined sample_64.variant26 20 rs3746792
dbSNP Clinvar 		389456 2694.03 C T PASS 1/1 201 MOTIF[MA0062.2:Gabp] LOW None 0.40415 0.40420 0.45403 None None None None None None RBCK1|0.095045325|52.09%
View combined sample_64.variant26 22 . 51021270 2072.36 G A PASS 0/1 170 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None CHKB|0.058859608|60.19%
View combined sample_64.variant26 1 rs2251098
dbSNP Clinvar 		3566706 2038.47 G A PASS 1/1 55 MOTIF[MA0062.2:Gabp] MODIFIER None 0.70727 0.70730 None None None None None None WRAP73|0.036942374|66.8%
View combined sample_64.variant26 1 rs717863
dbSNP Clinvar 		16563635 1113.87 A G PASS 0/1 51 MOTIF[MA0062.2:Gabp] MODIFIER None 0.71106 0.71110 None None None None None None RSG1|0.106344274|49.9%
View combined sample_64.variant26 2 rs34809504
dbSNP Clinvar 		86422793 2035.22 G C PASS 0/1 107 MOTIF[MA0062.2:Gabp] LOW None 0.43470 0.43470 None None None None None None IMMT|0.372274886|22.58%
View combined sample_64.variant26 2 rs35957458
dbSNP Clinvar 		86422796 2068.17 A AGCT PASS 0/1 106 MOTIF[MA0062.2:Gabp] LOW None 0.43530 0.43530 None None None None None None IMMT|0.372274886|22.58%
View combined sample_64.variant26 5 rs4565199
dbSNP Clinvar 		149737221 2988.7 T G PASS 1/1 64 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99940 0.99940 None None None None None None TCOF1|0.029215491|69.76%
View combined sample_64.variant26 6 rs72097186,rs567041258,rs58958183
dbSNP Clinvar 		160182898 690.1 CC... C,... PASS 0/1 11 MOTIF[MA0062.2:Gabp] LOW None 0.30430 None None None None None None SOD2|0.992264909|1%,ACAT2|0.090493467|53.12%
View combined sample_64.variant26 7 rs2247628
dbSNP Clinvar 		50132913 1785.13 C T PASS 0/1 56 MOTIF[MA0062.2:Gabp] LOW None 0.77756 0.77760 None None None None None None ZPBP|0.046697117|63.69%
View combined sample_64.variant26 10 rs2244396
dbSNP Clinvar 		43932479 1713.46 A G PASS 1/1 67 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99601 0.99600 None None None None None None ZNF487|0.002066386|90.81%
View combined sample_64.variant26 11 rs7102434
dbSNP Clinvar 		62607068 1633.7 A G PASS 0/1 195 MOTIF[MA0062.2:Gabp] MODIFIER None 0.11242 0.11240 0.08219 6.47 0.08 0.74339 D None None None None WDR74|0.135102832|45.09%
View combined sample_64.variant26 16 rs186588339
dbSNP Clinvar 		69796411 68.95 C T PASS 0/1 4 MOTIF[MA0062.2:Gabp] MODIFIER None 0.02955 0.02955 None None None None None None WWP2|0.488930934|16.36%
View combined sample_64.variant26 17 rs960121
dbSNP Clinvar 		65713796 322.39 G A PASS 1/1 5 MOTIF[MA0062.2:Gabp] MODIFIER None 0.75020 0.75020 None None None None None None None
View combined sample_64.variant26 19 rs10414431
dbSNP Clinvar 		40854331 2375.84 A T PASS 0/1 202 MOTIF[MA0062.2:Gabp] LOW None 0.23023 0.23020 None None None None None None C19orf47|0.105883404|50.02%
View combined sample_64.variant26 22 rs75147926
dbSNP Clinvar 		23522810 1824.28 A G PASS 0/1 68 MOTIF[MA0062.2:Gabp] LOW None None None None None None None BCR|0.805888971|5.65%
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