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+ Genes 1

Genes:
RNF213,

+ Genes associated with diseases 1

Genes at Omim

RNF213,
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)

Genes at Clinical Genomics Database

RNF213,
RNF213 Moyamoya disease 2

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 1

Export to: CSV
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RNF213
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 046_tsvc_variants 17 rs72849841
dbSNP Clinvar 		78272294 229.83 C T PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.11382 0.11380 0.14524 0.01 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs6565674
dbSNP Clinvar 		78298938 978.45 A G PASS 1/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs8082521
dbSNP Clinvar 		78302157 86.76 C A PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.55831 0.55830 0.29917 0.00 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs10782008
dbSNP Clinvar 		78305871 768.79 G A PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.48882 0.48880 0.40933 0.10 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs9913636
dbSNP Clinvar 		78306102 338.99 G C PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.34325 0.34330 0.38655 0.23 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs8074015
dbSNP Clinvar 		78306280 1421.36 A G PASS 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.59665 0.59660 0.29676 0.00 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs9908287
dbSNP Clinvar 		78306308 2099.19 C G PASS 1/1 218 SYNONYMOUS_CODING LOW None 0.48742 0.48740 0.40933 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs4890009
dbSNP Clinvar 		78311508 911.13 G A PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.59804 0.59800 0.29194 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs9674961
dbSNP Clinvar 		78319136 2697.19 G A PASS 1/1 280 NON_SYNONYMOUS_CODING MODERATE None 0.55851 0.55850 0.33954 0.00 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs4890012
dbSNP Clinvar 		78319380 1938.44 G C PASS 1/1 202 SYNONYMOUS_CODING LOW None 0.00040 0.47320 0.42750 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs7216493
dbSNP Clinvar 		78327358 1085.62 G A PASS 1/1 109 SYNONYMOUS_CODING LOW None 0.62899 0.62900 0.29064 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs4889848
dbSNP Clinvar 		78354661 734.26 C T PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.75939 0.75940 0.11825 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs61745599
dbSNP Clinvar 		78355494 97.45 C G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.03035 0.03035 0.07427 0.88 None None None None None None RNF213|0.001313454|93.8%
View 046_tsvc_variants 17 rs8072774
dbSNP Clinvar 		78363054 185.37 G A PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.11182 0.11180 0.15601 0.00 None None None None None None RNF213|0.001313454|93.8%
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