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 CHR:

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+ Genes 3

Genes:
BUB1B, CHRNA3, FANCI,

+ Genes associated with diseases 3

Genes at Omim

BUB1B, CHRNA3, FANCI,
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)

Genes at Clinical Genomics Database

BUB1B, FANCI,
BUB1B Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
FANCI Fanconi anemia, complementation group I

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

BUB1B
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 5_s5 15 rs1047130
dbSNP Clinvar 		40488851 29906.54 G A PASS 1/1 1104 SYNONYMOUS_CODING LOW None 0.19070 0.19070 0.22643 None None None None None None BUB1B|0.539848425|14.21%
View 5_s5 15 rs1801376
dbSNP Clinvar 		40477831 17812.42 G A PASS 1/1 697 NON_SYNONYMOUS_CODING MODERATE None 0.62820 0.62820 0.26403 1.00 0.00 None None None None None None BUB1B|0.539848425|14.21%

CHRNA3
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 5_s5 15 rs1051730
dbSNP Clinvar 		78894339 5750.81 G A PASS 0/1 847 SYNONYMOUS_CODING LOW None 0.16813 0.16810 0.27192 None None None None None None CHRNA3|0.230381335|33.33%

FANCI
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 5_s5 15 rs1138465
dbSNP Clinvar 		89858602 27896.03 T C PASS 1/1 1192 SYNONYMOUS_CODING LOW None 0.41234 0.41230 0.40960 None None None None None None FANCI|0.35466511|23.8%
View 5_s5 15 rs17803620
dbSNP Clinvar 		89804043 5336.15 C T PASS 1/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.25978 0.25980 0.28628 0.10 0.06 None None None None None None FANCI|0.35466511|23.8%
View 5_s5 15 rs2283432
dbSNP Clinvar 		89836228 16919.42 G C PASS 1/1 595 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.28994 0.39 0.01 None None None None None None FANCI|0.35466511|23.8%
View 5_s5 15 rs7183618
dbSNP Clinvar 		89838236 11903.26 G A PASS 1/1 430 SYNONYMOUS_CODING LOW None 0.98083 0.98080 0.03993 None None None None None None FANCI|0.35466511|23.8%
View 5_s5 15 rs35875311
dbSNP Clinvar 		89838318 1152.67 A T PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.05950 0.05950 0.08293 0.40 0.06 None None None None None None FANCI|0.35466511|23.8%
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 5_s5 15 rs4775699
dbSNP Clinvar 		47873549 1873.96 C T PASS 0/1 379 None None None 0.37081 0.37080 0.43252 None None None None None None SEMA6D|0.872174744|4.17%
View 5_s5 15 rs8034191
dbSNP Clinvar 		78806023 7701.04 T C PASS 0/1 804 None None None 0.18890 0.18890 None None None None None None HYKK|0.017275553|75.69%
View 5_s5 15 rs4924410
dbSNP Clinvar 		40339494 2713.47 A C PASS 0/1 302 None None None 0.79273 0.79270 None None None None None None None
View 5_s5 15 rs4779584
dbSNP Clinvar 		32994756 6188.31 T C PASS 1/1 253 None None None 0.50699 0.50700 None None None None None None None
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