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rs121909018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs121909018(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592646
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909018
ebirs121909018
HLIrs121909018
Exacrs121909018
Varsomers121909018
Maprs121909018
PheGenIrs121909018
hapmaprs121909018
1000 genomesrs121909018
hgdprs121909018
ensemblrs121909018
gopubmedrs121909018
geneviewrs121909018
scholarrs121909018
googlers121909018
pharmgkbrs121909018
gwascentralrs121909018
openSNPrs121909018
23andMers121909018
23andMe allrs121909018
SNP Nexus

SNPshotrs121909018
SNPdbers121909018
MSV3drs121909018
GWAS Ctlgrs121909018
Max Magnitude3
OMIM602421
Desc
Variant0053
Relatedalso
ClinVar
Risk rs121909018(T;T)
Alt rs121909018(T;T)
Reference rs121909018(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232700G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007577.3,