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+ Genes 1

Genes:
CTU2,

+ Genes associated with diseases 1

Genes at Omim

CTU2,
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 31
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

CTU2
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 94533-0209701724_ms_onbait 16 rs11278302,rs397761749
dbSNP Clinvar 		88780634 4893663.66 AG... A PASS 0/1 41 MOTIF[MA0162.1:Egr1] LOW None 0.77376 0.77380 None None None None None None CTU2|0.007426883|83.12%
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 94533-0209701724_ms_onbait 6 . 37611864 3713.61 AC... A PASS 1/1 1 MOTIF[MA0162.1:Egr1] LOW None None None None None None None MDGA1|0.301646924|27.53%
View 94533-0209701724_ms_onbait 7 rs1045897
dbSNP Clinvar 		129592510 212174.68 G T PASS 0/1 14 MOTIF[MA0162.1:Egr1] MODIFIER None 0.17532 0.17530 None None None None None None UBE2H|0.984259716|1.33%
View 94533-0209701724_ms_onbait 16 rs2235632
dbSNP Clinvar 		1393020 719168.86 G A PASS 0/1 22 MOTIF[MA0162.1:Egr1] LOW None 0.35184 0.35180 0.40325 None None None None None None BAIAP3|0.02462485|71.97%
View 94533-0209701724_ms_onbait 16 rs7191439
dbSNP Clinvar 		88780685 3814199.65 C T PASS 0/1 21 MOTIF[MA0162.1:Egr1] MODIFIER None 0.01018 0.84840 0.12860 None None None None None None CTU2|0.007426883|83.12%
View 94533-0209701724_ms_onbait 19 rs112570276
dbSNP Clinvar 		1863628 18038.77 A C PASS 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None 1.00000 1.00000 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs57122454
dbSNP Clinvar 		7927465 162724.04 G C PASS 0/1 15 MOTIF[MA0162.1:Egr1] MODIFIER None 0.43211 0.43210 0.24292 None None None None None None EVI5L|0.086789363|53.81%
View 94533-0209701724_ms_onbait 22 rs430858
dbSNP Clinvar 		21822826 20182.65 C T PASS 1/1 4 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View 94533-0209701724_ms_onbait 22 rs444588
dbSNP Clinvar 		21822836 18515.56 A G PASS 1/1 6 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View 94533-0209701724_ms_onbait 3 rs968588
dbSNP Clinvar 		52489564 945128.57 A T PASS 1/1 10 MOTIF[MA0162.1:Egr1] MODIFIER None 0.97125 0.97120 None None None None None None NISCH|0.147521349|43.38%
View 94533-0209701724_ms_onbait 22 rs140459227
dbSNP Clinvar 		31503580 225668.35 GC G PASS 1/1 2 MOTIF[MA0162.1:Egr1] LOW None 0.59086 0.59090 None None None None None None None
View 94533-0209701724_ms_onbait 1 rs10645094,rs199535458
dbSNP Clinvar 		40840270 201178.05 T TGC PASS 0/1 11 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View 94533-0209701724_ms_onbait 1 rs209574
dbSNP Clinvar 		40840272 27174.72 T C PASS 0/1 14 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View 94533-0209701724_ms_onbait 2 rs41281525
dbSNP Clinvar 		62115776 284789.2 G A PASS 0/1 7 MOTIF[MA0162.1:Egr1] MODIFIER None 0.14117 0.14120 None None None None None None CCT4|0.816474939|5.4%
View 94533-0209701724_ms_onbait 2 rs15656
dbSNP Clinvar 		70520846 278215.5 C T PASS 0/1 18 MOTIF[MA0162.1:Egr1] LOW None 0.06909 0.06909 0.05388 None None None None None None SNRPG|0.735588372|7.48%
View 94533-0209701724_ms_onbait 10 rs12247015
dbSNP Clinvar 		60145079 188064.28 A G PASS 0/1 33 MOTIF[MA0162.1:Egr1] MODIFIER None 0.44529 0.44530 None None None None None None TFAM|0.115164564|48.27%
View 94533-0209701724_ms_onbait 16 rs3214648,rs34748915
dbSNP Clinvar 		2255804 92378.7 TG T PASS 0/1 8 MOTIF[MA0162.1:Egr1] LOW None 0.48542 None None None None None None MLST8|0.291487513|28.27%
View 94533-0209701724_ms_onbait 17 rs139223575
dbSNP Clinvar 		7123240 1979469.93 T TG... PASS 0/1 23 MOTIF[MA0162.1:Egr1] LOW None 0.00679 0.46790 0.45172 None None None None None None ACADVL|0.231050725|33.28%
View 94533-0209701724_ms_onbait 19 rs1004323
dbSNP Clinvar 		3643093 251322.83 G A PASS 1/1 21 MOTIF[MA0162.1:Egr1] MODIFIER None 0.64637 0.64640 None None None None None None PIP5K1C|0.05958372|59.99%
View 94533-0209701724_ms_onbait 19 rs114428049
dbSNP Clinvar 		3643163 3245.64 C A PASS 0/1 15 MOTIF[MA0162.1:Egr1] MODIFIER None 0.00759 0.00759 None None None None None None PIP5K1C|0.05958372|59.99%
View 94533-0209701724_ms_onbait 22 rs62235085
dbSNP Clinvar 		37622999 55968.51 C T PASS 0/1 10 MOTIF[MA0162.1:Egr1] LOW None 0.32768 0.32770 None None None None None None RAC2|0.602833016|11.7%
View 94533-0209701724_ms_onbait 1 . 7831276 5177.58 G C PASS 0/1 7 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View 94533-0209701724_ms_onbait 1 rs894155150
dbSNP Clinvar 		1550829 107.96 G A PASS 0/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None MIB2|0.038692855|66.21%
View 94533-0209701724_ms_onbait 2 rs12692386
dbSNP Clinvar 		9695906 2099039.25 A G PASS 1/1 17 MOTIF[MA0162.1:Egr1] MODIFIER None 0.60883 0.60880 None None None None None None ADAM17|0.398835803|20.86%
View 94533-0209701724_ms_onbait 4 rs4145517
dbSNP Clinvar 		190862287 69479.15 C T PASS 0/1 14 MOTIF[MA0162.1:Egr1] LOW None 0.26578 0.26580 0.28299 None None None None None None FRG1|0.098149242|51.5%
View 94533-0209701724_ms_onbait 5 . 145583467 40.47 T G PASS 0/1 3 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None RBM27|0.51312987|15.24%
View 94533-0209701724_ms_onbait 6 . 143381936 1222.2 CC... C PASS 0/1 2 MOTIF[MA0162.1:Egr1] LOW None None None None None None None AIG1|0.320528247|26.11%
View 94533-0209701724_ms_onbait 16 rs1386092
dbSNP Clinvar 		4675116 1907247.73 G T PASS 1/1 27 MOTIF[MA0162.1:Egr1] LOW None 0.71965 0.71960 None None None None None None MGRN1|0.132392343|45.56%
View 94533-0209701724_ms_onbait 18 rs1077511
dbSNP Clinvar 		77748525 104729.79 A C PASS 1/1 4 MOTIF[MA0162.1:Egr1] MODIFIER None 0.79812 0.79810 None None None None None None TXNL4A|0.151661677|42.73%
View 94533-0209701724_ms_onbait 18 rs9952181
dbSNP Clinvar 		77794410 447279.45 C T PASS 0/1 13 MOTIF[MA0162.1:Egr1] LOW None 0.20447 0.20450 None None None None None None RBFA|0.002028782|90.91%
View 94533-0209701724_ms_onbait 19 rs67621412
dbSNP Clinvar 		52800516 411686.74 C A PASS 0/1 27 MOTIF[MA0162.1:Egr1] LOW None 0.29173 0.29170 None None None None None None ZNF480|0.000598976|97.95%
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