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rs121909040

From SNPedia

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


Make rs121909040(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642466
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909040
dbSNP (classic)rs121909040
ClinGenrs121909040
ebirs121909040
HLIrs121909040
Exacrs121909040
Gnomadrs121909040
Varsomers121909040
LitVarrs121909040
Maprs121909040
PheGenIrs121909040
Biobankrs121909040
1000 genomesrs121909040
hgdprs121909040
ensemblrs121909040
geneviewrs121909040
scholarrs121909040
googlers121909040
pharmgkbrs121909040
gwascentralrs121909040
openSNPrs121909040
23andMers121909040
SNPshotrs121909040
SNPdbers121909040
MSV3drs121909040
GWAS Ctlgrs121909040
Max Magnitude3
OMIM602421
Desc
Variant0111
Relatedalso
ClinVar
Risk rs121909040(A;A)
Alt rs121909040(A;A)
Reference Rs121909040(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282520G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007637.3,