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rs76879328

From SNPedia

Cystic Fibrosis related
Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs76879328(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position117540305
GeneCFTR
is asnp
is mentioned by
dbSNPrs76879328
ebirs76879328
HLIrs76879328
Exacrs76879328
Varsomers76879328
Maprs76879328
PheGenIrs76879328
hapmaprs76879328
1000 genomesrs76879328
hgdprs76879328
ensemblrs76879328
gopubmedrs76879328
geneviewrs76879328
scholarrs76879328
googlers76879328
pharmgkbrs76879328
gwascentralrs76879328
openSNPrs76879328
23andMers76879328
23andMe allrs76879328
SNP Nexus

SNPshotrs76879328
SNPdbers76879328
MSV3drs76879328
GWAS Ctlgrs76879328
Max Magnitude3

Cystic fibrosis perhaps; listed as pathogenic in ClinVar but not listed at all in CFTR2

named i5006087, i5011113 and i5053861 by 23andMe


ClinVar
Risk rs76879328(T;T)
Alt rs76879328(T;T)
Reference rs76879328(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 1
HGVS NC_000007.13:g.117180359C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007589.2,