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rs121909020

From SNPedia

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


Make rs121909020(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611640
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909020
ebirs121909020
HLIrs121909020
Exacrs121909020
Varsomers121909020
Maprs121909020
PheGenIrs121909020
hapmaprs121909020
1000 genomesrs121909020
hgdprs121909020
ensemblrs121909020
gopubmedrs121909020
geneviewrs121909020
scholarrs121909020
googlers121909020
pharmgkbrs121909020
gwascentralrs121909020
openSNPrs121909020
23andMers121909020
23andMe allrs121909020
SNP Nexus

SNPshotrs121909020
SNPdbers121909020
MSV3drs121909020
GWAS Ctlgrs121909020
Max Magnitude3
OMIM602421
Desc
Variant0055
Relatedalso
ClinVar
Risk rs121909020(A,C;A,C)
Alt rs121909020(A,C;A,C)
Reference rs121909020(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117251694G>A; NC_000007.13:g.117251694G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007579.3, RCV000078995.4, RCV000046818.2,