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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
VPS11,

+ Genes associated with diseases 1

Genes at Omim

VPS11,
VPS11 Leukodystrophy, hypomyelinating, 12, 616683 (3)

Genes at Clinical Genomics Database

VPS11,
VPS11 Leukodystrophy, hypomyelinating 12

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

VPS11
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 mp91583 both 11 rs5795166
dbSNP Clinvar 		118939939 1906.73 T TC . 1/1 50 None None None 0.00128 None None None None None None VPS11|0.32932957|25.52%
View mp91583 both 11 rs1784302
dbSNP Clinvar 		118940957 712.77 C G . 0/1 65 SYNONYMOUS_CODING LOW None 0.38319 0.38320 0.43617 None None None None None None VPS11|0.32932957|25.52%
View mp91583 both 11 rs540261
dbSNP Clinvar 		118947634 867.77 C T . 0/1 60 SYNONYMOUS_CODING LOW None 0.43191 0.43190 0.36919 None None None None None None VPS11|0.32932957|25.52%
View mp91583 both 11 rs1177562
dbSNP Clinvar 		118949331 578.77 C T . 0/1 53 SYNONYMOUS_CODING LOW None 0.33886 0.33890 0.39667 None None None None None None VPS11|0.32932957|25.52%
View mp91583 both 11 rs15818
dbSNP Clinvar 		118952173 1661.77 A G . 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.35463 0.35460 0.42883 0.42 0.01 None None None None None None VPS11|0.32932957|25.52%
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