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 CHR:

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+ Genes 1

Genes:
CYP4V2,

+ Genes associated with diseases 1

Genes at Omim

CYP4V2,
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)

Genes at Clinical Genomics Database

CYP4V2,
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

CYP4V2
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 22603_s55 4 rs3736455
dbSNP Clinvar 		187122319 77.0 T G PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.57748 0.57750 0.36007 None None None None None None CYP4V2|0.027940176|70.46%
View 22603_s55 4 rs13146272
dbSNP Clinvar 		187120211 100.0 C A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.55931 0.55930 0.37175 1.00 0.00 None None None None None None CYP4V2|0.027940176|70.46%
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 22603_s55 4 rs2276917
dbSNP Clinvar 		187129995 100.0 A G PASS 1/1 21 None None None 0.36941 0.36940 0.36599 None None None None None None CYP4V2|0.027940176|70.46%
View 22603_s55 4 rs62350517
dbSNP Clinvar 		187115777 97.0 G C PASS 0/1 14 None None None 0.02256 0.02256 0.05751 None None None None None None CYP4V2|0.027940176|70.46%
View 22603_s55 4 rs34444497
dbSNP Clinvar 		121631395 51.0 TAC T PASS 0/1 12 None None None 0.05052 0.05052 None None None None None None PRDM5|0.189342478|37.9%
View 22603_s55 4 rs71597093
dbSNP Clinvar 		121631375 51.0 G GAT PASS 0/1 12 None None None None None None None None None PRDM5|0.189342478|37.9%
  • Page 1 of 1