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rs121909019

From SNPedia

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


Make rs121909019(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611638
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909019
ebirs121909019
HLIrs121909019
Exacrs121909019
Varsomers121909019
Maprs121909019
PheGenIrs121909019
hapmaprs121909019
1000 genomesrs121909019
hgdprs121909019
ensemblrs121909019
gopubmedrs121909019
geneviewrs121909019
scholarrs121909019
googlers121909019
pharmgkbrs121909019
gwascentralrs121909019
openSNPrs121909019
23andMers121909019
23andMe allrs121909019
SNP Nexus

SNPshotrs121909019
SNPdbers121909019
MSV3drs121909019
GWAS Ctlgrs121909019
Max Magnitude3

Cystic fibrosis; c.3197G>A, p.Arg1066His

named i5011817 and i5006083 by 23andMe

OMIM602421
Desc
Variant0054
Relatedalso
ClinVar
Risk rs121909019(A,T;A,T)
Alt rs121909019(A,T;A,T)
Reference rs121909019(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117251692G>A; NC_000007.13:g.117251692G>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007578.5, RCV000046816.2,