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rs121908765

From SNPedia

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


Make rs121908765(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627665
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908765
ebirs121908765
HLIrs121908765
Exacrs121908765
Varsomers121908765
Maprs121908765
PheGenIrs121908765
hapmaprs121908765
1000 genomesrs121908765
hgdprs121908765
ensemblrs121908765
gopubmedrs121908765
geneviewrs121908765
scholarrs121908765
googlers121908765
pharmgkbrs121908765
gwascentralrs121908765
openSNPrs121908765
23andMers121908765
23andMe allrs121908765
SNP Nexus

SNPshotrs121908765
SNPdbers121908765
MSV3drs121908765
GWAS Ctlgrs121908765
Merged fromRs121909039
Max Magnitude3

Cystic fibrosis; c.3612G>A, p.Trp1204Ter

named i5011958 and i5006119 by 23andMe

OMIM602421
Desc
Variant0107
Relatedalso
ClinVar
Risk rs121908765(A;A)
Alt rs121908765(A;A)
Reference rs121908765(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.117267719G>A
CLNSRC CFTR2 HGMD
CLNACC RCV000056384.4, RCV000078999.3,