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

rs121909011

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs121909011(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540230
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909011
ebirs121909011
HLIrs121909011
Exacrs121909011
Varsomers121909011
Maprs121909011
PheGenIrs121909011
hapmaprs121909011
1000 genomesrs121909011
hgdprs121909011
ensemblrs121909011
gopubmedrs121909011
geneviewrs121909011
scholarrs121909011
googlers121909011
pharmgkbrs121909011
gwascentralrs121909011
openSNPrs121909011
23andMers121909011
23andMe allrs121909011
SNP Nexus

SNPshotrs121909011
SNPdbers121909011
MSV3drs121909011
GWAS Ctlgrs121909011
GMAF0.0004591
Max Magnitude3

Cystic fibrosis; c.1000C>T, R334W or Arg334Trp

named i4000296 by 23andMe, and also i5006070 and i5011077 aka R334W or Arg334Trp

OMIM602421
Desc
Variant0034
Relatedalso
ClinVar
Risk rs121909011(T;T)
Alt rs121909011(T;T)
Reference rs121909011(C;C)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117180284C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007559.8, RCV000224060.1,