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rs142864834

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs142864834(A;T)
Make rs142864834(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117536650
GeneCFTR
is asnp
is mentioned by
dbSNPrs142864834
dbSNP (classic)rs142864834
ClinGenrs142864834
ebirs142864834
HLIrs142864834
Exacrs142864834
Gnomadrs142864834
Varsomers142864834
LitVarrs142864834
Maprs142864834
PheGenIrs142864834
Biobankrs142864834
1000 genomesrs142864834
hgdprs142864834
ensemblrs142864834
geneviewrs142864834
scholarrs142864834
googlers142864834
pharmgkbrs142864834
gwascentralrs142864834
openSNPrs142864834
23andMers142864834
SNPshotrs142864834
SNPdbers142864834
MSV3drs142864834
GWAS Ctlgrs142864834
Max Magnitude0
ClinVar
Risk rs142864834(T;T)
Alt rs142864834(T;T)
Reference Rs142864834(A;A)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117176704A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029546.1,