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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: 12
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 12066_s20 4 rs13146272
dbSNP Clinvar 		187120211 100.0 C A PASS 0/1 77 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%
View 12066_s20 4 rs34331648
dbSNP Clinvar 		187118720 100.0 G A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.02037 0.02037 0.02891 0.36 0.01 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 12066_s20 4 rs4862662
dbSNP Clinvar 		187118662 100.0 G T PASS 0/1 41 None None None 0.31190 0.31190 0.39220 None None None None None None CYP4V2|0.027940176|70.46%
View 12066_s20 4 rs10013653
dbSNP Clinvar 		187115632 100.0 C A PASS 0/1 55 None None None 0.40395 0.40400 0.48508 None None None None None None CYP4V2|0.027940176|70.46%
View 12066_s20 4 rs3115310
dbSNP Clinvar 		121774515 100.0 T C PASS 0/1 55 None None None 0.20487 0.20490 None None None None None None PRDM5|0.189342478|37.9%
View 12066_s20 4 rs2136998
dbSNP Clinvar 		121737767 100.0 G A PASS 0/1 57 None None None 0.39577 0.39580 0.37044 None None None None None None PRDM5|0.189342478|37.9%
View 12066_s20 4 rs5861493,rs3838231
dbSNP Clinvar 		121732339 100.0 A AT PASS 0/1 38 None None None 0.35863 0.35860 None None None None None None PRDM5|0.189342478|37.9%
View 12066_s20 4 rs1511310
dbSNP Clinvar 		121720781 82.0 G T PASS 0/1 13 None None None 0.11641 0.11640 0.11150 None None None None None None PRDM5|0.189342478|37.9%
View 12066_s20 4 . 121631395 100.0 TAC CAT PASS 0/1 30 None None None None None None None None None PRDM5|0.189342478|37.9%
View 12066_s20 4 rs2102575
dbSNP Clinvar 		187131504 100.0 G A PASS 1/1 67 None None None 0.91034 0.91030 None None None None None None CYP4V2|0.027940176|70.46%,KLKB1|0.016624072|76.14%
View 12066_s20 4 rs200162265
dbSNP Clinvar 		121631377 100.0 C T PASS 0/1 30 None None None None None None None None None PRDM5|0.189342478|37.9%
View 12066_s20 4 rs2276917
dbSNP Clinvar 		187129995 100.0 A G PASS 0/1 75 None None None 0.36941 0.36940 0.36599 None None None None None None CYP4V2|0.027940176|70.46%
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