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rs74467662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 carrier of a cystic fibrosis allele
Make rs74467662(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117509145
GeneCFTR
is asnp
is mentioned by
dbSNPrs74467662
ebirs74467662
HLIrs74467662
Exacrs74467662
Varsomers74467662
Maprs74467662
PheGenIrs74467662
hapmaprs74467662
1000 genomesrs74467662
hgdprs74467662
ensemblrs74467662
gopubmedrs74467662
geneviewrs74467662
scholarrs74467662
googlers74467662
pharmgkbrs74467662
gwascentralrs74467662
openSNPrs74467662
23andMers74467662
23andMe allrs74467662
SNP Nexus

SNPshotrs74467662
SNPdbers74467662
MSV3drs74467662
GWAS Ctlgrs74467662
Max Magnitude3
ClinVar
Risk rs74467662(C,G;C,G)
Alt rs74467662(C,G;C,G)
Reference rs74467662(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117149199A>C
CLNSRC CFTR2
CLNACC RCV000029501.3,



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


[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.


[PMID 9150159OA-icon.png] Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.


[PMID 9950364OA-icon.png] Cystic fibrosis carrier frequencies in populations of African origin.


[PMID 12089190] Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.


[PMID 15025720] Novel CFTR mutations in black cystic fibrosis patients.