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rs213950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) very slight (1.1x) increase in type-1 diabetes risk
(A;G) very slight (1.1x) increase in type-1 diabetes risk
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome7
Position117559479
GeneCFTR
is asnp
is mentioned by
dbSNPrs213950
ebirs213950
HLIrs213950
Exacrs213950
Varsomers213950
Maprs213950
PheGenIrs213950
hapmaprs213950
1000 genomesrs213950
hgdprs213950
ensemblrs213950
gopubmedrs213950
geneviewrs213950
scholarrs213950
googlers213950
pharmgkbrs213950
gwascentralrs213950
openSNPrs213950
23andMers213950
23andMe allrs213950
SNP Nexus

SNPshotrs213950
SNPdbers213950
MSV3drs213950
GWAS Ctlgrs213950
GMAF0.4605
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs213950, a SNP in the cystic fibrosis CFTR gene (but not one that is linked to cystic fibrosis), has been reported in a large study to be associated with type-1 diabetes.

In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for this SNP was recalculated to be 1.09 (CI 1.04–1.15). [PMID 17554260OA-icon.png]

OMIM602421
DescCFTR POLYMORPHISM
Variant0023
Relatedalso
Neighborrs332
Distance114


[PMID 19728845] Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene


[PMID 20116881OA-icon.png] Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk


[PMID 22740931OA-icon.png] Association of CFTR gene polymorphisms with papillary thyroid cancer


ClinVar
Risk rs213950(A;A)
Alt rs213950(A;A)
Reference rs213950(G;G)
Significance Other
Disease Hereditary pancreatitis not specified Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Hereditary pancreatitis not specified Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199533G\x3d; NC_000007.13:g.117199533G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000119035.2, RCV000152994.2, RCV000007550.2, RCV000036517.9,



[PMID 16436643OA-icon.png] A haplotype framework for cystic fibrosis mutations in Iran.


[PMID 18716917OA-icon.png] A novel computational and structural analysis of nsSNPs in CFTR gene.


[PMID 19359276OA-icon.png] Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


GET Evidence
CFTR-V470M
aa_change Val470Met
aa_change_short V470M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.607176
summary