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+ Genes 8

+ Genes associated with diseases 4

Genes at Omim

ASXL3, BCL2, DCC, SETBP1,
ASXL3 Bainbridge-Ropers syndrome, 615485 (3)
BCL2 Leukemia/lymphoma, B-cell, 2 (3)
DCC Colorectal cancer, somatic, 114500 (3)
Esophageal carcinoma, somatic, 133239 (3)
Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
SETBP1 Mental retardation, autosomal dominant 29, 616078 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)

Genes at Clinical Genomics Database

ASXL3, DCC, SETBP1,
ASXL3 Bainbridge-Ropers syndrome
DCC Mirror movements 1
SETBP1 Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome

Genes at HGMD

Summary

Number of Variants: 30
Number of Genes: 8

Export to: CSV
  • Page 1 of 1

ASXL3
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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs2282632
dbSNP Clinvar 		31320229 100.0 A G PASS 1/1 488 NON_SYNONYMOUS_CODING MODERATE None 0.70328 0.70330 0.39929 0.17 0.00 None None None None None None ASXL3|0.548869749|13.78%

BCL2
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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs1801018
dbSNP Clinvar 		60985879 100.0 T C PASS 0/1 829 SYNONYMOUS_CODING LOW None 0.24321 0.24320 0.31045 None None None None None None BCL2|0.938364507|2.54%

CDH2
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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs1628684
dbSNP Clinvar 		25570228 100.0 G C PASS 1/1 399 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00638 None None None None None None CDH2|0.998144482|0.55%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs17445840
dbSNP Clinvar 		25593694 100.0 C T PASS 0/1 930 NON_SYNONYMOUS_CODING MODERATE None 0.04633 0.04633 0.04498 0.87 0.01 None None None None None None CDH2|0.998144482|0.55%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs41274322
dbSNP Clinvar 		25593713 100.0 G C PASS 0/1 914 SYNONYMOUS_CODING LOW None 0.04633 0.04633 0.04529 None None None None None None CDH2|0.998144482|0.55%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs1220144
dbSNP Clinvar 		25565082 100.0 A G PASS 1/1 622 SYNONYMOUS_CODING LOW None 0.99002 0.99000 0.01000 None None None None None None CDH2|0.998144482|0.55%

CDH20
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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs595093
dbSNP Clinvar 		59170304 100.0 C G PASS 1/1 483 SYNONYMOUS_CODING LOW None 0.99581 0.99580 0.00461 None None None None None None CDH20|0.521854874|14.91%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs12964819
dbSNP Clinvar 		59166541 100.0 C T PASS 0/1 1133 SYNONYMOUS_CODING LOW None 0.62220 0.62220 0.34100 None None None None None None CDH20|0.521854874|14.91%

DCC
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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs9951523
dbSNP Clinvar 		49867224 100.0 T C PASS 1/1 464 NON_SYNONYMOUS_CODING MODERATE None 0.99581 0.99580 0.01084 0.53 0.00 None None None None None None DCC|0.980899041|1.44%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs2229082
dbSNP Clinvar 		50936994 2314.91 T C PASS 0/1 583 SYNONYMOUS_CODING LOW None 0.31030 0.31030 0.43587 None None None None None None DCC|0.980899041|1.44%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 . 50936977 91.7113 G A PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None DCC|0.980899041|1.44%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs2229080
dbSNP Clinvar 		50432602 100.0 C G PASS 0/1 1098 NON_SYNONYMOUS_CODING MODERATE None 0.47744 0.47740 0.35937 0.07 0.42 None None None None None None DCC|0.980899041|1.44%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs34075746
dbSNP Clinvar 		50985608 100.0 G A PASS 0/1 794 SYNONYMOUS_CODING LOW None 0.00160 0.00160 0.00108 None None None None None None DCC|0.980899041|1.44%

MBD1
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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs125555
dbSNP Clinvar 		47800179 2366.14 G C PASS 0/1 428 NON_SYNONYMOUS_CODING MODERATE None 0.17772 0.17770 0.17653 0.08 1.00 None None None None None None MBD1|0.061704646|59.4%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 . 47800178 1938.52 G GC PASS 0/1 427 FRAME_SHIFT HIGH None None None None None None None MBD1|0.061704646|59.4%

SETBP1
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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs11082414
dbSNP Clinvar 		42529996 1376.46 G C PASS 0/1 409 NON_SYNONYMOUS_CODING MODERATE None 0.15675 0.15670 0.18530 0.09 0.01 None None None None None None SETBP1|0.84909665|4.67%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs8096662
dbSNP Clinvar 		42533130 100.0 A G PASS 1/1 395 SYNONYMOUS_CODING LOW None 0.90695 0.90690 0.10042 None None None None None None SETBP1|0.84909665|4.67%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 . 42531767 49.2106 G A PASS 0/1 383 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None SETBP1|0.84909665|4.67%

ZNF521
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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 . 22806069 169.672 T C PASS 0/1 467 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.01 None None None None None None None
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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs12604262
dbSNP Clinvar 		50917982 1667.64 C T PASS 0/1 336 None None None 0.30292 0.30290 0.42345 None None None None None None DCC|0.980899041|1.44%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs10853631
dbSNP Clinvar 		50936780 100.0 G A PASS 0/1 680 None None None 0.31110 0.31110 0.43595 None None None None None None DCC|0.980899041|1.44%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs8092870
dbSNP Clinvar 		25562831 1599.63 C T PASS 0/1 280 None None None 0.24161 0.24160 None None None None None None CDH2|0.998144482|0.55%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs2957286
dbSNP Clinvar 		25573622 100.0 G C PASS 1/1 426 None None None 0.99401 0.99400 0.00546 None None None None None None CDH2|0.998144482|0.55%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs11873515
dbSNP Clinvar 		50937026 2247.15 A G PASS 0/1 573 None None None 0.30990 0.30990 0.43585 None None None None None None DCC|0.980899041|1.44%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs4940744
dbSNP Clinvar 		56390553 100.0 A G PASS 1/1 230 None None None 0.95128 0.95130 None None None None None None MALT1|0.189803548|37.84%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs28740963
dbSNP Clinvar 		56400826 100.0 T C PASS 1/1 336 None None None 0.24501 0.24500 0.24815 None None None None None None MALT1|0.189803548|37.84%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs680530
dbSNP Clinvar 		59157764 100.0 T C PASS 1/1 310 None None None 0.99201 0.99200 0.00984 None None None None None None CDH20|0.521854874|14.91%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 rs4799705
dbSNP Clinvar 		31225030 1520.06 G T PASS 0/1 334 None None None 0.50240 0.50240 None None None None None None ASXL3|0.548869749|13.78%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 . 22642724 17.1422 A G PASS 0/1 139 None None None None None None None None None None
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 . 45375067 18.6526 GA AA,AG PASS 0/1 211 None None None None None None None None None SMAD2|0.999529797|0.33%
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