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+ Genes 7

+ Genes associated with diseases 2

Genes at Omim

ERCC6L2, HIBCH,
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)

Genes at Clinical Genomics Database

ERCC6L2, HIBCH,
ERCC6L2 Bone marrow failure syndrome 2
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 7

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 tsvc_variants_ionxpress_002-4 3 rs3732895
dbSNP Clinvar 		100712249 242.27 T C PASS 0/1 242 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%

ANKRD36
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 tsvc_variants_ionxpress_002-4 2 rs200032015
dbSNP Clinvar 		97779478 15.95 T A PASS 0/1 169 START_LOST HIGH None 0.00 0.01 None None None None None None ANKRD36|0.001192347|94.46%

ERCC6L2
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 tsvc_variants_ionxpress_002-4 9 rs690528
dbSNP Clinvar 		98638288 123.22 A G PASS 0/1 100 START_LOST HIGH None 0.25240 0.25240 0.24126 0.71 0.00 None None None None None None ERCC6L2|0.051614036|62.16%

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 tsvc_variants_ionxpress_002-4 2 rs291466
dbSNP Clinvar 		191184475 471.98 A G PASS 1/1 49 START_LOST HIGH None 0.43171 0.43170 0.44810 0.01 0.02 None None None None None None HIBCH|0.096813865|51.74%

HYAL4
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 tsvc_variants_ionxpress_002-4 7 rs12672205
dbSNP Clinvar 		123508328 510.82 A G PASS 0/1 199 START_LOST HIGH None 0.06310 0.06310 0.02046 0.00 0.01 None None None None None None HYAL4|0.04056387|65.58%

LENG9
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 tsvc_variants_ionxpress_002-4 19 rs1981829
dbSNP Clinvar 		54974774 569.31 A T PASS 1/1 59 START_LOST HIGH None 0.59365 0.59370 0.02 0.00 None None None None None None LENG9|0.000334699|99.27%

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 tsvc_variants_ionxpress_002-4 11 rs1905055
dbSNP Clinvar 		56113516 388.32 T C PASS 1/1 40 START_LOST HIGH None 0.77995 0.78000 0.32099 0.00 0.01 None None None None None None OR8K1|0.005619396|85.08%
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