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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
CFTR,

+ Genes associated with diseases 1

Genes at Omim

CFTR,
CFTR {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
{Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)

Genes at Clinical Genomics Database

CFTR,
CFTR Cystic fibrosis

Genes at HGMD

Summary

Number of Variants: 17
Number of Genes: 1

Export to: CSV
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CFTR
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 tsvc_variants_ionxpress_002 7 rs150212784
dbSNP Clinvar 		117251649 2875.42 T G PASS 0/1 628 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00 0.98 None None None None None None None
View tsvc_variants_ionxpress_002 7 rs213950
dbSNP Clinvar 		117199533 24713.3 G A PASS 0/1 1787 NON_SYNONYMOUS_CODING MODERATE None 0.58207 0.58210 0.40235 1.00 0.00 None None None None None None None
View tsvc_variants_ionxpress_002 7 . 117199708 105.893 A G PASS 0/1 2489 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02 0.08 None None None None None None None
View tsvc_variants_ionxpress_002 7 rs1042077
dbSNP Clinvar 		117235055 7603.26 T G PASS 0/1 1598 SYNONYMOUS_CODING LOW None 0.47923 0.47920 0.40281 None None None None None None None
View tsvc_variants_ionxpress_002 7 rs1800136
dbSNP Clinvar 		117307108 14135.7 G A PASS 0/1 3157 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.22590 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 tsvc_variants_ionxpress_002 7 . 117188660 7125.19 AT... AT... PASS 1/2 634 None None None None None None None None None None
View tsvc_variants_ionxpress_002 7 . 117188678 2233.45 GT... GT... PASS 0/3 614 None None None None None None None None None None
View tsvc_variants_ionxpress_002 7 rs34855237
dbSNP Clinvar 		117199457 4051.66 A G PASS 0/1 808 None None None 0.33666 0.33670 None None None None None None None
View tsvc_variants_ionxpress_002 7 rs213981
dbSNP Clinvar 		117254527 3868.63 A C PASS 0/1 898 None None None 0.14876 0.14880 None None None None None None None
View tsvc_variants_ionxpress_002 7 rs213989
dbSNP Clinvar 		117267511 4739.51 C A PASS 0/1 1091 None None None 0.14397 0.14400 None None None None None None None
View tsvc_variants_ionxpress_002 7 rs213965
dbSNP Clinvar 		117229537 6371.35 T A PASS 1/1 424 None None None 0.57328 0.57330 None None None None None None None
View tsvc_variants_ionxpress_002 7 rs1042180
dbSNP Clinvar 		117308413 856.33 C T PASS 0/1 152 None None None None None None None None None None
View tsvc_variants_ionxpress_002 7 . 117250900 10.6684 G T PASS 0/1 469 None None None None None None None None None None
View tsvc_variants_ionxpress_002 7 rs34654194
dbSNP Clinvar 		117143718 3660.7 A G PASS 0/1 795 None None None 0.04373 0.04373 None None None None None None None
View tsvc_variants_ionxpress_002 7 rs1800502
dbSNP Clinvar 		117175505 17159.2 A G PASS 0/1 3626 None None None 0.01657 0.01657 0.03668 None None None None None None None
View tsvc_variants_ionxpress_002 7 rs796749572
dbSNP Clinvar 		117176568 3482.8 AGATT A PASS 0/1 790 None None None None None None None None None None
View tsvc_variants_ionxpress_002 7 rs1800503
dbSNP Clinvar 		117176738 4901.59 C T PASS 0/1 1204 None None None 0.05032 0.05032 0.13037 None None None None None None None
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