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rs121908805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 carrier of a cystic fibrosis allele
(C;C) 0 common in clinvar
(C;G) 3 carrier of a cystic fibrosis allele
Make rs121908805(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559468
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908805
ebirs121908805
HLIrs121908805
Exacrs121908805
Varsomers121908805
Maprs121908805
PheGenIrs121908805
hapmaprs121908805
1000 genomesrs121908805
hgdprs121908805
ensemblrs121908805
gopubmedrs121908805
geneviewrs121908805
scholarrs121908805
googlers121908805
pharmgkbrs121908805
gwascentralrs121908805
openSNPrs121908805
23andMers121908805
23andMe allrs121908805
SNP Nexus

SNPshotrs121908805
SNPdbers121908805
MSV3drs121908805
GWAS Ctlgrs121908805
Max Magnitude3

Cystic fibrosis; c.1397C>A or c.1397C>G, p.Ser466Ter

named i5011223 or i5011224 by 23andMe


ClinVar
Risk rs121908805(A,G,T;A,G,T)
Alt rs121908805(A,G,T;A,G,T)
Reference rs121908805(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199522C>A; NC_000007.13:g.117199522C>G; NC_000007.13:g.117199522C>T
CLNSRC CFTR2
CLNACC RCV000056348.3, RCV000029475.4, RCV000046294.2,



[PMID 7509683] Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.

OMIM602421
Desc
Variant
Relatedalso