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rs121908745

From SNPedia

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


Make rs121908745(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559590
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908745
ebirs121908745
HLIrs121908745
Exacrs121908745
Varsomers121908745
Maprs121908745
PheGenIrs121908745
hapmaprs121908745
1000 genomesrs121908745
hgdprs121908745
ensemblrs121908745
gopubmedrs121908745
geneviewrs121908745
scholarrs121908745
googlers121908745
pharmgkbrs121908745
gwascentralrs121908745
openSNPrs121908745
23andMers121908745
23andMe allrs121908745
SNP Nexus

SNPshotrs121908745
SNPdbers121908745
MSV3drs121908745
GWAS Ctlgrs121908745
Max Magnitude3

Cystic fibrosis; c.1519_1521delATC, p.Ile507del


ClinVar
Risk rs121908745(;)
Alt rs121908745(;)
Reference rs121908745(ATC;ATC)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117199644_117199646delATC
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007525.9, RCV000224705.1,


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