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+ Genes 6

+ Genes associated with diseases 1

Genes at Omim

HIBCH,
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)

Genes at Clinical Genomics Database

ATP6V1B1, HIBCH,
ATP6V1B1 Renal tubular acidosis with deafness
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 6

Export to: CSV
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ABI3BP
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 allfamilies BQ0 3 rs3732895
dbSNP Clinvar 		100712249 870.275 T C PASS 0/1 479 START_LOST HIGH None 0.23942 0.23940 0.14508 0.81 0.00 None None None None None None ABI3BP|0.072954425|56.79%

ATP6V1B1
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 allfamilies BQ0 2 rs11681642
dbSNP Clinvar 		71163086 341.11 T C PASS 0/1 12 START_LOST HIGH None 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

HAS1
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 allfamilies BQ0 19 rs56166910
dbSNP Clinvar 		52223180 734.564 A G PASS 0/1 155 START_LOST HIGH None 0.44169 0.44170 0.31876 0.12 0.02 None None None None None None HAS1|0.18273667|38.7%

HIBCH
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 allfamilies BQ0 2 rs291466
dbSNP Clinvar 		191184475 1268.54 A G PASS 0/1 53 START_LOST HIGH None 0.43171 0.43170 0.44810 0.01 0.04 None None None None None None HIBCH|0.096813865|51.74%

OR8K1
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 allfamilies BQ0 11 rs1905055
dbSNP Clinvar 		56113516 593.88 T C PASS 1/1 44 START_LOST HIGH None 0.77995 0.78000 0.32099 0.00 0.02 None None None None None None OR8K1|0.005619396|85.08%

ZNF211
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 allfamilies BQ0 19 rs9749449
dbSNP Clinvar 		58144715 522.242 A G PASS 0/1 32 START_LOST HIGH None 0.21446 0.21450 0.15526 1.00 0.00 None None None None None None ZNF211|0.001054755|95.15%
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