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rs121908761

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 carrier of a cystic fibrosis allele
(C;C) 0 common in clinvar
(C;G) 3 carrier of a cystic fibrosis allele
Make rs121908761(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611717
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908761
ebirs121908761
HLIrs121908761
Exacrs121908761
Varsomers121908761
Maprs121908761
PheGenIrs121908761
hapmaprs121908761
1000 genomesrs121908761
hgdprs121908761
ensemblrs121908761
gopubmedrs121908761
geneviewrs121908761
scholarrs121908761
googlers121908761
pharmgkbrs121908761
gwascentralrs121908761
openSNPrs121908761
23andMers121908761
23andMe allrs121908761
SNP Nexus

SNPshotrs121908761
SNPdbers121908761
MSV3drs121908761
GWAS Ctlgrs121908761
Merged fromRs121908762, Rs121909038
Max Magnitude3

Cystic fibrosis; c.3276C>A, p.Tyr1092Ter as well as c.3276C>G, p.Tyr1092Ter

named i5011851 and i5011852 by 23andMe

OMIM602421
Desc
Variant0106
Relatedalso
ClinVar
Risk rs121908761(A,G;A,G)
Alt rs121908761(A,G;A,G)
Reference rs121908761(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117251771C>A; NC_000007.13:g.117251771C>G
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000056379.5, RCV000119251.2, RCV000056380.5,



[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.