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rs121908770

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 3 cystic fibrosis carrier
(A;A) 0 common in clinvar


Make rs121908770(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117531067
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908770
ebirs121908770
HLIrs121908770
Exacrs121908770
Varsomers121908770
Maprs121908770
PheGenIrs121908770
hapmaprs121908770
1000 genomesrs121908770
hgdprs121908770
ensemblrs121908770
gopubmedrs121908770
geneviewrs121908770
scholarrs121908770
googlers121908770
pharmgkbrs121908770
gwascentralrs121908770
openSNPrs121908770
23andMers121908770
23andMe allrs121908770
SNP Nexus

SNPshotrs121908770
SNPdbers121908770
MSV3drs121908770
GWAS Ctlgrs121908770
Max Magnitude3

Cystic fibrosis; c.442delA or Ile148Leufs

named i5010879 by 23andMe

ClinVar
Risk rs121908770(;)
Alt rs121908770(;)
Reference rs121908770(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117171121delA
CLNSRC CFTR2
CLNACC RCV000056392.3,



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


[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.