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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
CDH23,

+ Genes associated with diseases 1

Genes at Omim

CDH23,
CDH23 Deafness, autosomal recessive 12, 601386 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)

Genes at Clinical Genomics Database

CDH23,
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic

Genes at HGMD

Summary

Number of Variants: 16
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

CDH23
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 73157033 496.73 CC... CC... PASS 0/1 27 None None None None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3802720
dbSNP Clinvar 		73270906 2461.77 T C PASS 0/1 190 None None None 0.73463 0.73460 0.25040 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3802719
dbSNP Clinvar 		73270982 2018.77 G A PASS 0/1 115 None None None 0.72524 0.72520 0.26035 0.65 0.00 -1.98 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1227049
dbSNP Clinvar 		73434888 3681.77 G C PASS 1/1 78 None None None 0.18530 0.18530 0.12119 0.01 1.00 5.80 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3752752
dbSNP Clinvar 		73455201 1115.77 T C PASS 0/1 86 None None None 0.55451 0.55450 0.33122 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3752751
dbSNP Clinvar 		73455273 912.77 T C PASS 0/1 65 None None None 0.55391 0.55390 0.33060 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2394838
dbSNP Clinvar 		73472868 1264.77 C G PASS 0/1 102 None None None 0.44988 0.44990 0.34619 1.00 0.00 None None None None None None CDH23|0.499757104|15.83%,C10orf105|0.03223183|68.5%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2166631
dbSNP Clinvar 		73472882 1276.77 C T PASS 0/1 106 None None None 0.44129 0.44130 0.34550 0.95 0.00 None None None None None None CDH23|0.499757104|15.83%,C10orf105|0.03223183|68.5%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1227065
dbSNP Clinvar 		73492079 4850.77 A G PASS 1/1 117 None None None 0.78215 0.78210 0.18710 1.00 0.00 -0.13 None None None None None None CDH23|0.499757104|15.83%,C10orf105|0.03223183|68.5%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1227051
dbSNP Clinvar 		73501556 6203.77 G A PASS 1/1 143 None None None 0.72883 0.72880 0.25892 1.00 0.00 0.87 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10466026
dbSNP Clinvar 		73550969 676.77 G A PASS 0/1 36 None None None 0.33267 0.33270 0.26548 0.58 0.42 1.98 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs41281334
dbSNP Clinvar 		73558128 679.77 G A PASS 0/1 47 None None None 0.03674 0.03674 0.03396 0.76 0.03 0.23 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4747194
dbSNP Clinvar 		73558886 1058.77 G A PASS 0/1 71 None None None 0.34125 0.34130 0.26201 0.22 0.02 2.87 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4747195
dbSNP Clinvar 		73558952 574.77 C T PASS 0/1 64 None None None 0.32828 0.32830 0.25434 0.00 0.98 4.92 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10823849
dbSNP Clinvar 		73562744 2742.77 G A PASS 0/1 149 None None None 0.32847 0.32850 0.24883 None None None None None None CDH23|0.499757104|15.83%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2290021
dbSNP Clinvar 		73574843 1516.77 G A PASS 0/1 98 None None None 0.13978 0.13980 0.06933 None None None None None None CDH23|0.499757104|15.83%
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