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+ Genes 2

Genes:
CBS, KCNE1,

+ Genes associated with diseases 2

Genes at Omim

CBS, KCNE1,
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
KCNE1 Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Long QT syndrome 5, 613695 (3)

Genes at Clinical Genomics Database

CBS, KCNE1,
CBS Homocystinuria due to cystathionine beta-synthase deficiency
KCNE1 Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 2

Export to: CSV
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CBS
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 21 rs5742905
dbSNP Clinvar 		44483184 9.49 A G LowGQX;LowQD;SB 0/1 261 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00020 0.00020 0.00308 0.02 0.88 None None None None None None CBS|0.170288794|40.28%
View na12877-rep1_s1 21 rs754901660
dbSNP Clinvar 		44476000 98.75 C CT LowQD 0/1 297 None None None None None None None None None CBS|0.170288794|40.28%
View na12877-rep1_s1 21 rs8132811
dbSNP Clinvar 		44475877 1345.52 C T PASS 0/1 140 None None None 0.19209 0.19210 None None None None None None CBS|0.170288794|40.28%

KCNE1
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 21 rs1805127
dbSNP Clinvar 		35821821 5123.26 T C PASS 0/1 473 NON_SYNONYMOUS_CODING MODERATE None 0.67392 0.67390 0.33808 0.44 0.00 None None None None None None KCNE1|0.029341968|69.68%
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