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rs142394380

From SNPedia

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


Make rs142394380(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611622
GeneCFTR
is asnp
is mentioned by
dbSNPrs142394380
ebirs142394380
HLIrs142394380
Exacrs142394380
Varsomers142394380
Maprs142394380
PheGenIrs142394380
hapmaprs142394380
1000 genomesrs142394380
hgdprs142394380
ensemblrs142394380
gopubmedrs142394380
geneviewrs142394380
scholarrs142394380
googlers142394380
pharmgkbrs142394380
gwascentralrs142394380
openSNPrs142394380
23andMers142394380
23andMe allrs142394380
SNP Nexus

SNPshotrs142394380
SNPdbers142394380
MSV3drs142394380
GWAS Ctlgrs142394380
GMAF0.0004591
Max Magnitude3

Cystic fibrosis; c.3181G>C, p.Gly1061Arg

named i5011808 by 23andMe

ClinVar
Risk rs142394380(C;C)
Alt rs142394380(C;C)
Reference rs142394380(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117251676G>C
CLNSRC CFTR2 HGMD
CLNACC RCV000046807.3, RCV000078994.4,