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rs121908772

From SNPedia

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


Make rs121908772(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117536607
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908772
ebirs121908772
HLIrs121908772
Exacrs121908772
Varsomers121908772
Maprs121908772
PheGenIrs121908772
hapmaprs121908772
1000 genomesrs121908772
hgdprs121908772
ensemblrs121908772
gopubmedrs121908772
geneviewrs121908772
scholarrs121908772
googlers121908772
pharmgkbrs121908772
gwascentralrs121908772
openSNPrs121908772
23andMers121908772
23andMe allrs121908772
SNP Nexus

SNPshotrs121908772
SNPdbers121908772
MSV3drs121908772
GWAS Ctlgrs121908772
Max Magnitude3
ClinVar
Risk rs121908772(;)
Alt rs121908772(;)
Reference rs121908772(A;A)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117176661delA
CLNSRC CFTR2 Cystic Fibrosis Mutation Database HGMD
CLNACC RCV000047258.4, RCV000079013.3,



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