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+ Genes 5

Genes:
ADAMTS2, FBN2, MEGF10, MYOT, SQSTM1,

+ Genes associated with diseases 5

Genes at Omim

ADAMTS2, FBN2, MEGF10, MYOT, SQSTM1,
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
FBN2 Contractural arachnodactyly, congenital, 121050 (3)
Macular degeneration, early-onset, 616118 (3)
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MYOT Myopathy, myofibrillar, 3, 609200 (3)
Myopathy, spheroid body, 182920 (3)
SQSTM1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3)
Myopathy, distal, with rimmed vacuoles, 617158 (3)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3)
Paget disease of bone 3, 167250 (3)

Genes at Clinical Genomics Database

ADAMTS2, FBN2, MEGF10, MYOT, SQSTM1,
ADAMTS2 Ehlers-Danlos syndrome, type VII
FBN2 Congenital contractural arachnodactyly (Beals syndrome)
MEGF10 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
MYOT Myopathy, myofibrillar, 3
SQSTM1 Paget disease of bone 3

Genes at HGMD

Summary

Number of Variants: 24
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

ADAMTS2
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 file 5 rs423552
dbSNP Clinvar 		178634619 13734.77 C T . 1/1 544 SYNONYMOUS_CODING LOW SILENT 0.92452 0.92450 0.08473 None None None None None None ADAMTS2|0.325728261|25.76%
View file 5 rs66565583
dbSNP Clinvar 		178634547 3312.77 G A . 0/1 272 SYNONYMOUS_CODING LOW SILENT 0.13578 0.13580 0.17361 None None None None None None ADAMTS2|0.325728261|25.76%
View file 5 rs398829
dbSNP Clinvar 		178634672 4702.77 C T . 0/1 477 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43191 0.43190 0.32516 0.48 0.00 None None None None None None ADAMTS2|0.325728261|25.76%
View file 5 rs2278221
dbSNP Clinvar 		178581859 4522.77 G A . 0/1 439 SYNONYMOUS_CODING LOW SILENT 0.22844 0.22840 0.18691 None None None None None None ADAMTS2|0.325728261|25.76%
View file 5 rs1054480
dbSNP Clinvar 		178540975 6529.77 G A . 0/1 711 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26378 0.26380 0.22174 0.71 0.08 None None None None None None ADAMTS2|0.325728261|25.76%

FBN2
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 file 5 rs10070365
dbSNP Clinvar 		127597518 6303.77 G A . 0/1 653 SYNONYMOUS_CODING LOW SILENT 0.11282 0.11280 0.13855 None None None None None None FBN2|0.394987399|21.09%
View file 5 rs190450
dbSNP Clinvar 		127614472 5268.77 A G . 0/1 437 SYNONYMOUS_CODING LOW SILENT 0.72664 0.72660 0.32208 None None None None None None FBN2|0.394987399|21.09%

MEGF10
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 file 5 rs11950427
dbSNP Clinvar 		126769146 4787.77 T C . 0/1 481 SYNONYMOUS_CODING LOW SILENT 0.19149 0.19150 0.19653 None None None None None None MEGF10|0.305251769|27.23%
View file 5 rs31483
dbSNP Clinvar 		126746277 9556.77 C T . 1/1 346 SYNONYMOUS_CODING LOW SILENT 0.97344 0.97340 0.05905 None None None None None None MEGF10|0.305251769|27.23%
View file 5 rs3812054
dbSNP Clinvar 		126732427 3127.77 G A . 0/1 365 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08666 0.08666 0.10826 0.23 0.00 None None None None None None MEGF10|0.305251769|27.23%
View file 5 rs113794264
dbSNP Clinvar 		126732420 4359.77 C T . 0/1 395 SYNONYMOUS_CODING LOW SILENT 0.00439 0.00439 0.00892 None None None None None None MEGF10|0.305251769|27.23%
View file 5 rs3812055
dbSNP Clinvar 		126732399 3550.77 G A . 0/1 420 SYNONYMOUS_CODING LOW SILENT 0.16673 0.16670 0.17354 None None None None None None MEGF10|0.305251769|27.23%
View file 5 rs3812052
dbSNP Clinvar 		126792974 4615.77 T A . 0/1 426 SYNONYMOUS_CODING LOW SILENT 0.37800 0.37800 0.49339 None None None None None None MEGF10|0.305251769|27.23%
View file 5 rs17164935
dbSNP Clinvar 		126791282 3086.77 G A . 0/1 298 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12061 0.12060 0.14370 1.00 0.00 None None None None None None MEGF10|0.305251769|27.23%

MYOT
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 file 5 rs6890689
dbSNP Clinvar 		137206560 13809.77 A C . 1/1 496 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01484 1.00 0.00 None None None None None None MYOT|0.448968005|18.19%

SQSTM1
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 file 5 rs4797
dbSNP Clinvar 		179260213 3814.77 G A . 0/1 377 SYNONYMOUS_CODING LOW SILENT 0.58726 0.58730 0.49846 None None None None None None SQSTM1|0.259706406|30.77%
View file 5 rs146164139
dbSNP Clinvar 		179260601 2914.77 G A . 0/1 301 SYNONYMOUS_CODING LOW SILENT 0.00300 0.00300 0.00346 None None None None None None SQSTM1|0.259706406|30.77%
View file 5 rs4935
dbSNP Clinvar 		179260153 13356.77 C T . 1/1 497 SYNONYMOUS_CODING LOW SILENT 0.69369 0.69370 0.40281 None None None None None None SQSTM1|0.259706406|30.77%
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 file 5 rs27713
dbSNP Clinvar 		127640783 3021.77 G A . 0/1 326 None None None 0.73443 0.73440 None None None None None None FBN2|0.394987399|21.09%
View file 5 rs12153162
dbSNP Clinvar 		138643062 1527.77 T A . 0/1 142 None None None 0.44649 0.44650 0.45578 None None None None None None MATR3|0.889916336|3.66%
View file 5 rs112107315
dbSNP Clinvar 		138642997 571.73 A AT . 0/1 45 None None None 0.43171 0.43170 None None None None None None MATR3|0.889916336|3.66%
View file 5 rs155790
dbSNP Clinvar 		179263676 1662.77 G A . 0/1 139 None None None 0.00300 0.00300 None None None None None None SQSTM1|0.259706406|30.77%,C5orf45|0.001770546|91.6%
View file 5 rs10793809
dbSNP Clinvar 		126793219 7813.77 C G . 1/1 266 None None None 0.64157 0.64160 None None None None None None MEGF10|0.305251769|27.23%
View file 5 rs6595769
dbSNP Clinvar 		126734365 3657.77 C T . 0/1 385 None None None 0.19968 0.19970 0.20360 None None None None None None MEGF10|0.305251769|27.23%
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