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+ Genes 2

Genes:
LTBP2, NDUFB9,

+ Genes associated with diseases 2

Genes at Omim

LTBP2, NDUFB9,
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)

Genes at Clinical Genomics Database

LTBP2,
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 2

Export to: CSV
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LTBP2
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 15ac02303_s1 genome 14 rs77172932
dbSNP Clinvar 		74969268 705.99 C T PASS 0/1 74 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02556 0.02556 0.00 None None None None None None LTBP2|0.184719306|38.39%

NDUFB9
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 15ac02303_s1 genome 8 rs10195
dbSNP Clinvar 		125562029 969.65 C T PASS 0/1 81 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10284 0.10280 0.09042 0.36 0.00 None None None None None None NDUFB9|0.09890784|51.37%
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 15ac02303_s1 genome 17 rs820387
dbSNP Clinvar 		73746146 2285.01 T C PASS 1/1 76 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View 15ac02303_s1 genome 8 rs4841558
dbSNP Clinvar 		11415597 579.51 C T PASS 0/1 53 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.38867 None None None None None None BLK|0.095762795|51.98%
View 15ac02303_s1 genome 13 rs67765306
dbSNP Clinvar 		40229842 513.49 A AG PASS 0/1 43 MOTIF[MA0139.1:CTCF] LOW None 0.44369 0.44370 0.38268 None None None None None None COG6|0.303873453|27.36%
View 15ac02303_s1 genome 17 rs2189336
dbSNP Clinvar 		5326162 14.92 G A LowGQ;LowGQX 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View 15ac02303_s1 genome 17 . 42018294 9.3 C A LowGQX 0/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None PPY|0.071977505|56.99%
View 15ac02303_s1 genome 11 rs2074039
dbSNP Clinvar 		44092880 929.19 C T PASS 0/1 85 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.11203 None None None None None None ACCS|0.034927707|67.49%
View 15ac02303_s1 genome X . 55187399 4.97 C A LowGQX;SB 0/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None FAM104B|0.001440975|93.08%
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