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+ Genes 12

+ Genes associated with diseases 5

Genes at Omim

ERCC6L2, HIBCH, LOXHD1, MTTP, SCAPER,
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
LOXHD1 Deafness, autosomal recessive 77, 613079 (3)
MTTP {Metabolic syndrome, protection against}, 605552 (3)
Abetalipoproteinemia, 200100 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)

Genes at Clinical Genomics Database

ATP6V1B1, ERCC6L2, HIBCH, LOXHD1, MTTP,
ATP6V1B1 Renal tubular acidosis with deafness
ERCC6L2 Bone marrow failure syndrome 2
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
LOXHD1 Deafness, autosomal recessive 77
MTTP Abetalipoproteinemia

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 12

Export to: CSV
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AC110781.3
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 1528098 7 rs3889573
dbSNP Clinvar 		1878377 999.0 A G . 0/1 53 START_LOST HIGH None 0.83646 0.83650 0.00 None None None None None None MAD1L1|0.134111219|45.25%

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 1528098 2 rs11681642
dbSNP Clinvar 		71163086 999.0 T C . 0/1 89 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%

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 1528098 9 rs690528
dbSNP Clinvar 		98638288 999.0 A G . 0/1 60 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%

FAM188B
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 1528098 7 rs10216063
dbSNP Clinvar 		30915263 999.0 A G . 0/1 35 START_LOST HIGH None 0.45967 0.45970 0.31216 1.00 0.00 None None None None None None FAM188B|0.025227559|71.7%,AQP1|0.308533326|26.95%

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 1528098 19 rs56166910
dbSNP Clinvar 		52223180 999.0 A G . 1/1 40 START_LOST HIGH None 0.44169 0.44170 0.31876 0.12 0.00 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 1528098 2 rs291466
dbSNP Clinvar 		191184475 999.0 A G . 1/1 60 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%

IGLV3-12
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 1528098 22 rs6003299
dbSNP Clinvar 		23114327 999.0 T C . 1/1 46 START_LOST HIGH None 0.60863 0.60860 0.00 1.00 None None None None None None None

LOXHD1
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 1528098 18 rs36024592
dbSNP Clinvar 		44236995 999.0 A T . 0/1 72 START_LOST HIGH None 0.02236 0.02236 0.02979 0.00 0.17 None None None None None None LOXHD1|0.227324787|33.62%

MTTP
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 1528098 4 rs11944752
dbSNP Clinvar 		100485255 999.0 G A . 0/1 36 START_LOST HIGH None 0.25000 0.25000 0.00 None None None None None None MTTP|0.164689629|40.96%

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 1528098 11 rs1905055
dbSNP Clinvar 		56113516 999.0 T C . 1/1 108 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%

PRAM1
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 1528098 19 rs968502
dbSNP Clinvar 		8567475 999.0 T C . 0/1 18 START_LOST HIGH None 0.31190 0.31190 0.28596 1.00 0.00 None None None None None None PRAM1|0.002623515|89.43%

SCAPER
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 1528098 15 rs3812908
dbSNP Clinvar 		77176158 999.0 T C . 1/1 34 START_LOST HIGH None 0.41773 0.41770 0.29627 0.15 0.00 None None None None None None SCAPER|0.365657343|23.01%
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