Have questions? Visit https://www.reddit.com/r/SNPedia

rs76151804

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4 cystic fibrosis carrier
Make rs76151804(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611555
GeneCFTR
is asnp
is mentioned by
dbSNPrs76151804
ebirs76151804
HLIrs76151804
Exacrs76151804
Varsomers76151804
Maprs76151804
PheGenIrs76151804
hapmaprs76151804
1000 genomesrs76151804
hgdprs76151804
ensemblrs76151804
gopubmedrs76151804
geneviewrs76151804
scholarrs76151804
googlers76151804
pharmgkbrs76151804
gwascentralrs76151804
openSNPrs76151804
23andMers76151804
23andMe allrs76151804
SNP Nexus

SNPshotrs76151804
SNPdbers76151804
MSV3drs76151804
GWAS Ctlgrs76151804
Max Magnitude4

rs76151804, also known as 3272-26A->G and 3140-26A>G, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.

23andMe refers to this SNP as i5011792 and i5053854.


ClinVar
Risk rs76151804(G;G)
Alt rs76151804(G;G)
Reference rs76151804(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117251609A>G
CLNSRC CFTR2
CLNACC RCV000029519.5,



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


[PMID 750841] Anthropometric estimation of body density, fat, and lean body weight in women gymnasts.


[PMID 1379210] Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.


[PMID 11022925] Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis.


[PMID 11168023] The molecular basis of cystic fibrosis in South Africa.


[PMID 12955726] CFTR genotypes in patients with normal or borderline sweat chloride levels.


[PMID 16051530] Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.