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rs121909046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 cystic fibrosis carrier
Make rs121909046(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117535318
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909046
ebirs121909046
HLIrs121909046
Exacrs121909046
Varsomers121909046
Maprs121909046
PheGenIrs121909046
hapmaprs121909046
1000 genomesrs121909046
hgdprs121909046
ensemblrs121909046
gopubmedrs121909046
geneviewrs121909046
scholarrs121909046
googlers121909046
pharmgkbrs121909046
gwascentralrs121909046
openSNPrs121909046
23andMers121909046
23andMe allrs121909046
SNP Nexus

SNPshotrs121909046
SNPdbers121909046
MSV3drs121909046
GWAS Ctlgrs121909046
GMAF0.005969
Max Magnitude3
OMIM602421
Desc
Variant0134
Relatedalso
ClinVar
Risk rs121909046(G;G)
Alt rs121909046(G;G)
Reference rs121909046(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117175372A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007660.2,