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rs77284892

From SNPedia

Cystic Fibrosis related
Orientationminus
Geno Mag Summary
(A;C) 3 cystic fibrosis carrier
(C;C) 0 common in clinvar


Make rs77284892(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position117509047
GeneCFTR
is asnp
is mentioned by
dbSNPrs77284892
ebirs77284892
HLIrs77284892
Exacrs77284892
Varsomers77284892
Maprs77284892
PheGenIrs77284892
hapmaprs77284892
1000 genomesrs77284892
hgdprs77284892
ensemblrs77284892
gopubmedrs77284892
geneviewrs77284892
scholarrs77284892
googlers77284892
pharmgkbrs77284892
gwascentralrs77284892
openSNPrs77284892
23andMers77284892
23andMe allrs77284892
SNP Nexus

SNPshotrs77284892
SNPdbers77284892
MSV3drs77284892
GWAS Ctlgrs77284892
Max Magnitude3

Cystic fibrosis; c.178G>T, Glu60Ter or E60X

23andMe's name for this SNP is i5053835.


ClinVar
Risk rs77284892(A,T;A,T)
Alt rs77284892(A,T;A,T)
Reference rs77284892(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 1
HGVS NC_000007.13:g.117149101G>A; NC_000007.13:g.117149101G>T
CLNSRC CFTR2
CLNACC RCV000046474.2, RCV000056355.3,