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+ Genes 8

+ Genes associated with diseases 5

Genes at Omim

ASXL1, AURKA, DNMT3B, GNAS, SRC,
ASXL1 Bohring-Opitz syndrome, 605039 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
AURKA {Colon cancer, susceptibility to}, 114500 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
GNAS McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
SRC Colon cancer, advanced, somatic, 114500 (3)
?Thrombocytopenia 6, 616937 (3)

Genes at Clinical Genomics Database

ASXL1, DNMT3B, GNAS, SRC,
ASXL1 Bohring-Opitz syndrome
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
SRC Thrombocytopenia, autosomal dominant, 6

Genes at HGMD

Summary

Number of Variants: 22
Number of Genes: 8

Export to: CSV
  • Page 1 of 1

ASXL1
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 20 rs6058694
dbSNP Clinvar 		31022959 100.0 T C PASS 1/1 354 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00008 0.27 0.00 None None None None None None ASXL1|0.399812505|20.78%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 . 31022390 10.2994 AGGG AG... PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None None None None None None None ASXL1|0.399812505|20.78%

AURKA
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 20 rs1047972
dbSNP Clinvar 		54961463 100.0 T C PASS 1/1 1224 NON_SYNONYMOUS_CODING MODERATE None 0.84984 0.84980 0.16223 1.00 0.00 None None None None None None AURKA|0.191109207|37.7%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs2273535
dbSNP Clinvar 		54961541 100.0 A T PASS 1/1 453 NON_SYNONYMOUS_CODING MODERATE None 0.30970 0.30970 0.18822 0.43 0.00 None None None None None None AURKA|0.191109207|37.7%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs200774436
dbSNP Clinvar 		54945534 2206.74 G A PASS 0/1 452 None None None 0.00020 0.00020 0.00008 0.07 0.38 None None None None None None AURKA|0.191109207|37.7%

DNMT3B
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 20 rs6058891
dbSNP Clinvar 		31386347 1085.16 T C PASS 0/1 286 SYNONYMOUS_CODING LOW None 0.75579 0.75580 0.42088 None None None None None None DNMT3B|0.978021249|1.52%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs35216603
dbSNP Clinvar 		31384657 1696.77 G A PASS 0/1 341 SYNONYMOUS_CODING LOW None 0.01038 0.01038 0.00715 None None None None None None DNMT3B|0.978021249|1.52%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs2424922
dbSNP Clinvar 		31386449 695.617 T C PASS 0/1 244 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75579 0.75580 0.42227 None None None None None None DNMT3B|0.978021249|1.52%

GNAS
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 20 rs7121
dbSNP Clinvar 		57478807 100.0 C T PASS 1/1 682 SYNONYMOUS_CODING LOW None 0.64437 0.64440 0.42058 None None None None None None GNAS|0.689085503|8.83%

PLCG1
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 20 rs753381
dbSNP Clinvar 		39797465 1851.8 T C PASS 0/1 334 NON_SYNONYMOUS_CODING MODERATE None 0.73283 0.73280 0.33069 0.30 0.00 None None None None None None PLCG1|0.846527408|4.71%

PTPRT
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 20 rs2016647
dbSNP Clinvar 		40714479 2747.16 G A PASS 0/1 560 SYNONYMOUS_CODING LOW None 0.14397 0.14400 0.21199 None None None None None None PTPRT|0.944095136|2.38%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs2425516
dbSNP Clinvar 		41306600 655.296 A G PASS 0/1 164 SYNONYMOUS_CODING LOW None 0.38478 0.38480 0.38121 None None None None None None PTPRT|0.944095136|2.38%

SRC
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 20 rs1885257
dbSNP Clinvar 		36030939 100.0 G C PASS 1/1 615 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None SRC|0.999870243|0.2%

SRSF6
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 20 rs2235611
dbSNP Clinvar 		42089511 100.0 T C PASS 1/1 329 SYNONYMOUS_CODING LOW None 0.82169 0.82170 0.10957 None None None None None None SRSF6|0.378161019|22.18%
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 20 rs2076248
dbSNP Clinvar 		40743829 2086.78 A G PASS 0/1 406 None None None 0.55651 0.55650 0.43505 None None None None None None PTPRT|0.944095136|2.38%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs34282819
dbSNP Clinvar 		39657625 100.0 C A PASS 0/1 583 None None None 0.04193 0.04193 None None None None None None TOP1|0.972440026|1.64%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs73906203
dbSNP Clinvar 		36014631 1689.03 C T PASS 0/1 277 None None None 0.01438 0.01438 None None None None None None SRC|0.999870243|0.2%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs2298016
dbSNP Clinvar 		54959296 100.0 G C PASS 1/1 280 None None None 0.33427 0.33430 0.21934 None None None None None None AURKA|0.191109207|37.7%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs73258152
dbSNP Clinvar 		31375287 100.0 T C PASS 0/1 625 None None None 0.07648 0.07648 0.07952 None None None None None None DNMT3B|0.978021249|1.52%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs6089093
dbSNP Clinvar 		30421459 1126.67 C T PASS 0/1 252 None None None 0.22244 0.22240 0.28559 None None None None None None None
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 . 40709460 23.2688 CA... CA... PASS 0/5 769 None None None None None None None None None PTPRT|0.944095136|2.38%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 20 rs2424928
dbSNP Clinvar 		31388636 2807.85 T C PASS 0/1 578 None None None 0.74261 0.74260 0.43788 None None None None None None DNMT3B|0.978021249|1.52%
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