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rs121908798

From SNPedia

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


Make rs121908798(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530950
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908798
ebirs121908798
HLIrs121908798
Exacrs121908798
Varsomers121908798
Maprs121908798
PheGenIrs121908798
hapmaprs121908798
1000 genomesrs121908798
hgdprs121908798
ensemblrs121908798
gopubmedrs121908798
geneviewrs121908798
scholarrs121908798
googlers121908798
pharmgkbrs121908798
gwascentralrs121908798
openSNPrs121908798
23andMers121908798
23andMe allrs121908798
SNP Nexus

SNPshotrs121908798
SNPdbers121908798
MSV3drs121908798
GWAS Ctlgrs121908798
Max Magnitude3

Cystic fibrosis; c.325_327delTATinsG, Tyr109Glyfs

There are seven 23andMe SNPs covering this replacement of 3 nucleotides (TAT) with a single nucleotide (G), but the company does not reveal which if any of the following SNPs from this region actually correspond to the known cystic fibrosis mutation at this position: i5010817, i5010818, i5010819, i5006106, i5010820, i5010821 and i5010822. Our guess is that it is i5010821; if you know if this is correct, please let us know.

ClinVar
Risk rs121908798(G;G)
Alt rs121908798(G;G)
Reference rs121908798(TAT;TAT)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117171004_117171006delTATinsG
CLNSRC CFTR2
CLNACC RCV000056378.3,



[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.