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rs121908776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TA) 3 carrier of a cystic fibrosis allele
(AT;AT) 0 common in clinvar
(TA;TA) 0 common in clinvar


Make rs121908776(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559616
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908776
ebirs121908776
HLIrs121908776
Exacrs121908776
Varsomers121908776
Maprs121908776
PheGenIrs121908776
hapmaprs121908776
1000 genomesrs121908776
hgdprs121908776
ensemblrs121908776
gopubmedrs121908776
geneviewrs121908776
scholarrs121908776
googlers121908776
pharmgkbrs121908776
gwascentralrs121908776
openSNPrs121908776
23andMers121908776
23andMe allrs121908776
SNP Nexus

SNPshotrs121908776
SNPdbers121908776
MSV3drs121908776
GWAS Ctlgrs121908776
Max Magnitude3

Cystic fibrosis; c.1545_1546delTA, p.Tyr515Terfs

this may be named i5011275 by 23andMe, but it is unclear what deletion is being assayed

OMIM602421
Desc
Variant0035
Relatedalso
ClinVar
Risk rs121908776(;)
Alt rs121908776(;)
Reference rs121908776(AT;AT)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199670_117199671delTA
CLNSRC CFTR2 Cystic Fibrosis Mutation Database OMIM Allelic Variant
CLNACC RCV000007560.5,


[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.