{{Rsnum
|rsid=213950
|Gene=CFTR
|Chromosome=7
|position=117559479
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4605
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CFTR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 28.3 | 40.7 | 31.0
| HCB | 14.6 | 49.6 | 35.8
| JPT | 8.0 | 48.7 | 43.4
| YRI | 96.6 | 3.4 | 0.0
| ASW | 63.2 | 36.8 | 0.0
| CHB | 14.6 | 49.6 | 35.8
| CHD | 19.3 | 52.3 | 28.4
| GIH | 23.8 | 44.6 | 31.7
| LWK | 84.5 | 15.5 | 0.0
| MEX | 31.0 | 44.8 | 24.1
| MKK | 79.5 | 17.9 | 2.6
| TSI | 11.8 | 46.1 | 42.2
| HapMapRevision=28
}}[[rs213950]], a SNP in the cystic fibrosis [[CFTR]] gene, 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 1.04â€“1.15). {{PMID|17554260|OA=1
}}

{{omim
|desc=CFTR POLYMORPHISM
|id=602421
|quiet=1
|rsnum=213950
|variant=0023
}}

{{ neighbor
| rsid = 332
| distance = 114
}}

{{PMID Auto
|PMID=19728845
|Title=Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene
}}

{{PMID Auto
|PMID=20116881
|Title=Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk
|OA=1
}}

{{PMID Auto
|PMID=22740931
|Title=Association of CFTR gene polymorphisms with papillary thyroid cancer
|OA=1
}}

{{ClinVar
|rsid=213950
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=117199533
|CHROM=7
|GMAF=0.4597
|dbSNPBuildID=79
|SSR=0
|SAO=1
|VP=0x05036800000015051f110100
|GENEINFO=CFTR:1080
|GENE_NAME=CFTR
|GENE_ID=1080
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117199533G>A
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=219; 602421.0023
|CLNSIG=2
|CLNCUI=C0010674
|CLNDBN=Cystic fibrosis; AllHighlyPenetrant
|Disease=Cystic fibrosis; AllHighlyPenetrant
|CLNACC=RCV000007550.1; RCV000036517.2
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.4605; 0.5395
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008; CN169374
|COMMON=1
}}

{{PMID Auto
|PMID=16436643
|Title=A haplotype framework for cystic fibrosis mutations in Iran.
|OA=1
}}

{{PMID Auto
|PMID=18716917
|Title=A novel computational and structural analysis of nsSNPs in CFTR gene.
|OA=1
}}

{{PMID Auto
|PMID=19359276
|Title=Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
|OA=1
}}

{{PMID Auto
|PMID=19379518
|Title=Development of a fingerprinting panel using medically relevant polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{GET Evidence
|gene=CFTR
|aa_change=Val470Met
|aa_change_short=V470M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs213950
|overall_frequency_n=6532
|overall_frequency_d=10758
|overall_frequency=0.607176
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=75
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=6
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}