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rs121909008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 cystic fibrosis carrier
Make rs121909008(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603612
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909008
dbSNP (classic)rs121909008
ClinGenrs121909008
ebirs121909008
HLIrs121909008
Exacrs121909008
Gnomadrs121909008
Varsomers121909008
LitVarrs121909008
Maprs121909008
PheGenIrs121909008
Biobankrs121909008
1000 genomesrs121909008
hgdprs121909008
ensemblrs121909008
geneviewrs121909008
scholarrs121909008
googlers121909008
pharmgkbrs121909008
gwascentralrs121909008
openSNPrs121909008
23andMers121909008
SNPshotrs121909008
SNPdbers121909008
MSV3drs121909008
GWAS Ctlgrs121909008
Max Magnitude3
OMIM602421
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121909008(G;G)
Alt rs121909008(G;G)
Reference Rs121909008(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243666A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007548.3,