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rs121908751

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 carrier of a cystic fibrosis allele
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs121908751(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530899
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908751
ebirs121908751
HLIrs121908751
Exacrs121908751
Varsomers121908751
Maprs121908751
PheGenIrs121908751
hapmaprs121908751
1000 genomesrs121908751
hgdprs121908751
ensemblrs121908751
gopubmedrs121908751
geneviewrs121908751
scholarrs121908751
googlers121908751
pharmgkbrs121908751
gwascentralrs121908751
openSNPrs121908751
23andMers121908751
23andMe allrs121908751
SNP Nexus

SNPshotrs121908751
SNPdbers121908751
MSV3drs121908751
GWAS Ctlgrs121908751
Merged fromRs121909027, Rs121909029
Max Magnitude3

Cystic fibrosis; either c.274G>A or G>T, leading to Glu92Lys (E92K) or Glu92Ter (E92X)

named i5010782 and i5010783 by 23andMe

OMIM602421
Desc
Variant0082
Relatedalso
OMIM602421
Desc
Variant0077
Relatedalso
ClinVar
Risk rs121908751(A,T;A,T)
Alt rs121908751(A,T;A,T)
Reference rs121908751(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117170953G>A; NC_000007.13:g.117170953G>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007601.5, RCV000007606.5,