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

rs78756941

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Cystic Fibrosis carrier
Make rs78756941(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117531115
GeneCFTR
is asnp
is mentioned by
dbSNPrs78756941
ebirs78756941
HLIrs78756941
Exacrs78756941
Varsomers78756941
Maprs78756941
PheGenIrs78756941
hapmaprs78756941
1000 genomesrs78756941
hgdprs78756941
ensemblrs78756941
gopubmedrs78756941
geneviewrs78756941
scholarrs78756941
googlers78756941
pharmgkbrs78756941
gwascentralrs78756941
openSNPrs78756941
23andMers78756941
23andMe allrs78756941
SNP Nexus

SNPshotrs78756941
SNPdbers78756941
MSV3drs78756941
GWAS Ctlgrs78756941
Max Magnitude3

rs78756941, also known as 621+1G>T or 489+1G>T, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.

23andMe has at least three terms in use for rs78756941: i4000314, i5010909 and i6056291.


ClinVar
Risk rs78756941(T;T)
Alt rs78756941(T;T)
Reference rs78756941(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117171169G>T
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000043565.7,


[PMID 1536179] Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.


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


[PMID 15371902OA-icon.png] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.


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