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rs121908786

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
(-;A) 3 carrier of a cystic fibrosis allele
Make rs121908786(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592219
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908786
ebirs121908786
HLIrs121908786
Exacrs121908786
Varsomers121908786
Maprs121908786
PheGenIrs121908786
hapmaprs121908786
1000 genomesrs121908786
hgdprs121908786
ensemblrs121908786
gopubmedrs121908786
geneviewrs121908786
scholarrs121908786
googlers121908786
pharmgkbrs121908786
gwascentralrs121908786
openSNPrs121908786
23andMers121908786
23andMe allrs121908786
SNP Nexus

SNPshotrs121908786
SNPdbers121908786
MSV3drs121908786
GWAS Ctlgrs121908786
Max Magnitude3

Cystic fibrosis; c.2052_2053insA, p.Gln685Thrfs

named i5011485 by 23andMe

ClinVar
Risk rs121908786(A;A)
Alt rs121908786(A;A)
Reference rs121908786(;)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117232273dupA
CLNSRC CFTR2
CLNACC RCV000029493.4, RCV000152995.3,



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


[PMID 1733107OA-icon.png] Cauliflower mosaic virus: a 420 subunit (T = 7), multilayer structure.


[PMID 9272157] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.


[PMID 9482579] Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).


[PMID 10923036] Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.


[PMID 17378246] Rare genotype del2,3/2184insA in a cystic fibrosis patient.


[PMID 21296036] Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.

OMIM602421
Desc
Variant
Relatedalso