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rs75053309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 cystic fibrosis carrier
(C;C) 0 common in clinvar


Make rs75053309(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540309
GeneCFTR
is asnp
is mentioned by
dbSNPrs75053309
ebirs75053309
HLIrs75053309
Exacrs75053309
Varsomers75053309
Maprs75053309
PheGenIrs75053309
hapmaprs75053309
1000 genomesrs75053309
hgdprs75053309
ensemblrs75053309
gopubmedrs75053309
geneviewrs75053309
scholarrs75053309
googlers75053309
pharmgkbrs75053309
gwascentralrs75053309
openSNPrs75053309
23andMers75053309
23andMe allrs75053309
SNP Nexus

SNPshotrs75053309
SNPdbers75053309
MSV3drs75053309
GWAS Ctlgrs75053309
Max Magnitude3
OMIM602421
Desc
Variant0065
Relatedalso
ClinVar
Risk rs75053309(A,G,T;A,G,T)
Alt rs75053309(A,G,T;A,G,T)
Reference rs75053309(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180363C>A; NC_000007.13:g.117180363C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007589.2, RCV000046222.2,


[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.