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rs121908787

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 3 carrier of a cystic fibrosis allele
Make rs121908787(-;-)
Make rs121908787(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592342
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908787
ebirs121908787
HLIrs121908787
Exacrs121908787
Varsomers121908787
Maprs121908787
PheGenIrs121908787
hapmaprs121908787
1000 genomesrs121908787
hgdprs121908787
ensemblrs121908787
gopubmedrs121908787
geneviewrs121908787
scholarrs121908787
googlers121908787
pharmgkbrs121908787
gwascentralrs121908787
openSNPrs121908787
23andMers121908787
23andMe allrs121908787
SNP Nexus

SNPshotrs121908787
SNPdbers121908787
MSV3drs121908787
GWAS Ctlgrs121908787
Max Magnitude3

Cystic fibrosis; c.2175_2176insA, p.Glu726Argfs

apparently named i5011509 and i5053858 by 23andMe, however there is some ambiguity about this

OMIM602421
Desc
Variant0081
Relatedalso
ClinVar
Risk rs121908787(A;A)
Alt rs121908787(A;A)
Reference rs121908787(;)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232396dupA
CLNSRC CFTR2 Cystic Fibrosis Mutation Database OMIM Allelic Variant
CLNACC RCV000007605.5,


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