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rs143456784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier (most likely)
Make rs143456784(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117504324
GeneCFTR
is asnp
is mentioned by
dbSNPrs143456784
ebirs143456784
HLIrs143456784
Exacrs143456784
Varsomers143456784
Maprs143456784
PheGenIrs143456784
hapmaprs143456784
1000 genomesrs143456784
hgdprs143456784
ensemblrs143456784
gopubmedrs143456784
geneviewrs143456784
scholarrs143456784
googlers143456784
pharmgkbrs143456784
gwascentralrs143456784
openSNPrs143456784
23andMers143456784
23andMe allrs143456784
SNP Nexus

SNPshotrs143456784
SNPdbers143456784
MSV3drs143456784
GWAS Ctlgrs143456784
Max Magnitude3
ClinVar
Risk rs143456784(T;T)
Alt rs143456784(T;T)
Reference rs143456784(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117144378C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029472.2,


[PMID 75415] Lung-cancer mortality of workers making chrome pigments.

[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

[PMID 15084222OA-icon.png] Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

[PMID 16126774] Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.

[PMID 16801189] Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.

[PMID 19885835OA-icon.png] Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma.