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rs121909047

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 carrier of a cystic fibrosis allele
(C;C) 0 common in clinvar


Make rs121909047(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117590355
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909047
ebirs121909047
HLIrs121909047
Exacrs121909047
Varsomers121909047
Maprs121909047
PheGenIrs121909047
hapmaprs121909047
1000 genomesrs121909047
hgdprs121909047
ensemblrs121909047
gopubmedrs121909047
geneviewrs121909047
scholarrs121909047
googlers121909047
pharmgkbrs121909047
gwascentralrs121909047
openSNPrs121909047
23andMers121909047
23andMe allrs121909047
SNP Nexus

SNPshotrs121909047
SNPdbers121909047
MSV3drs121909047
GWAS Ctlgrs121909047
Max Magnitude3

Cystic fibrosis; c.1682C>A, p.Ala561Glu

named i5006134 and i5011368 by 23andMe

OMIM602421
Desc
Variant0136
Relatedalso
ClinVar
Risk rs121909047(A;A)
Alt rs121909047(A;A)
Reference rs121909047(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117230409C>A
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007662.3,