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+ Genes 5

Genes:
APOA4, CRYAB, EFEMP2, ILK, KCNJ5,

+ Genes associated with diseases 3

Genes at Omim

CRYAB, EFEMP2, KCNJ5,
CRYAB Cardiomyopathy, dilated, 1II, 615184 (3)
Cataract 16, multiple types, 613763 (3)
Myopathy, myofibrillar, 2, 608810 (3)
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3)
EFEMP2 Cutis laxa, autosomal recessive, type IB, 614437 (3)
KCNJ5 Hyperaldosteronism, familial, type III, 613677 (3)
Long QT syndrome 13, 613485 (3)

Genes at Clinical Genomics Database

CRYAB, EFEMP2, KCNJ5,
CRYAB Myopathy, myofibrillar, 2
Cardiomyopathy, dilated, 1II
Congenital cataract and cardiomyopathy
Cataract, myofibrillar myopathy and cardiomyopathy
EFEMP2 Cutis laxa, autosomal recessive type IB
KCNJ5 Long QT syndrome 13
Hyperaldosteronism, familial, type III

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

APOA4
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 na12877-rep1_s1 11 rs675
dbSNP Clinvar 		116691675 5724.36 T A PASS 0/1 552 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.09884 0.16854 0.36 0.01 None None None None None None APOA4|0.026315681|71.18%
View na12877-rep1_s1 11 rs5092
dbSNP Clinvar 		116693464 4173.66 C T PASS 1/1 167 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.16146 None None None None None None APOA4|0.026315681|71.18%
View na12877-rep1_s1 11 rs5104
dbSNP Clinvar 		116692334 4459.11 C T PASS 1/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.75919 0.75920 0.12629 1.00 0.00 None None None None None None APOA4|0.026315681|71.18%

CRYAB
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 na12877-rep1_s1 11 rs11603779
dbSNP Clinvar 		111781047 5350.41 A C PASS 0/1 444 None None None 0.23982 0.23980 0.27239 0.12 0.00 None None None None None None CRYAB|0.891555046|3.63%

EFEMP2
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 na12877-rep1_s1 11 rs601314
dbSNP Clinvar 		65636053 8683.33 T C PASS 1/1 360 NON_SYNONYMOUS_CODING MODERATE None 0.89457 0.89460 0.10551 1.00 0.00 None None None None None None EFEMP2|0.248373684|31.69%
View na12877-rep1_s1 11 rs633800
dbSNP Clinvar 		65638719 1613.22 G A PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.32109 0.32110 0.39665 None None None None None None EFEMP2|0.248373684|31.69%

ILK
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 na12877-rep1_s1 11 rs1043388
dbSNP Clinvar 		6629665 2704.63 C T PASS 0/1 249 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31470 0.31470 0.29498 None None None None None None ILK|0.927031493|2.82%,TAF10|0.251862987|31.38%
View na12877-rep1_s1 11 rs1043390
dbSNP Clinvar 		6630833 3475.47 G A PASS 0/1 322 SYNONYMOUS_CODING LOW None 0.34744 0.34740 0.32692 None None None None None None ILK|0.927031493|2.82%,TAF10|0.251862987|31.38%
View na12877-rep1_s1 11 rs11314683,rs398015268
dbSNP Clinvar 		6630028 12658.23 TC T PASS 1/1 353 None None None 1.00000 1.00000 None None None None None None ILK|0.927031493|2.82%,TAF10|0.251862987|31.38%

KCNJ5
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 na12877-rep1_s1 11 rs7118833
dbSNP Clinvar 		128782002 4677.65 T C PASS 0/1 470 SYNONYMOUS_CODING LOW None 0.86701 0.86700 0.15605 None None None None None None KCNJ5|0.219304401|34.46%
View na12877-rep1_s1 11 rs7102584
dbSNP Clinvar 		128782012 11372.13 C G PASS 1/1 449 NON_SYNONYMOUS_CODING MODERATE None 0.99501 0.99500 0.01293 1.00 0.00 None None None None None None KCNJ5|0.219304401|34.46%
View na12877-rep1_s1 11 rs6590357
dbSNP Clinvar 		128781339 961.5 T C PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.86981 0.86980 0.15174 None None None None None None KCNJ5|0.219304401|34.46%
View na12877-rep1_s1 11 rs7118824
dbSNP Clinvar 		128781978 5004.35 T G PASS 0/1 468 SYNONYMOUS_CODING LOW None 0.86621 0.86620 0.15728 None None None None None None KCNJ5|0.219304401|34.46%
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