rs74467662

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	carrier of a cystic fibrosis allele

Make rs74467662(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117509145

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs74467662
dbSNP (classic)	rs74467662
ClinGen	rs74467662
ebi	rs74467662
HLI	rs74467662
Exac	rs74467662
Gnomad	rs74467662
Varsome	rs74467662
LitVar	rs74467662
Map	rs74467662
PheGenI	rs74467662
Biobank	rs74467662
1000 genomes	rs74467662
hgdp	rs74467662
ensembl	rs74467662
geneview	rs74467662
scholar	rs74467662
google	rs74467662
pharmgkb	rs74467662
gwascentral	rs74467662
openSNP	rs74467662
23andMe	rs74467662
SNPshot	rs74467662
SNPdbe	rs74467662
MSV3d	rs74467662
GWAS Ctlg	rs74467662

Max Magnitude

3

ClinVar
Risk	rs74467662(C;C) rs74467662(G;G)
Alt	rs74467662(C;C) rs74467662(G;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 9150159 ] Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

[PMID 9950364 ] 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.