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rs121908782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACCA;ACCA) 0 common in clinvar
(CAAC;CAAC) 0 common in clinvar
Make rs121908782(-;-)
Make rs121908782(-;ACCA)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627588
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908782
ebirs121908782
HLIrs121908782
Exacrs121908782
Varsomers121908782
Maprs121908782
PheGenIrs121908782
hapmaprs121908782
1000 genomesrs121908782
hgdprs121908782
ensemblrs121908782
gopubmedrs121908782
geneviewrs121908782
scholarrs121908782
googlers121908782
pharmgkbrs121908782
gwascentralrs121908782
openSNPrs121908782
23andMers121908782
23andMe allrs121908782
SNP Nexus

SNPshotrs121908782
SNPdbers121908782
MSV3drs121908782
GWAS Ctlgrs121908782
Max Magnitude0
ClinVar
Risk rs121908782(;)
Alt rs121908782(;)
Reference rs121908782(CAAC;CAAC)
Significance Untested
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267642_117267645delACCA
CLNSRC ClinVar
CLNACC RCV000046923.2,


[PMID 7517264] Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).