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rs386134230

From SNPedia

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


Make rs386134230(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117606674
GeneCFTR
is asnp
is mentioned by
dbSNPrs386134230
ebirs386134230
HLIrs386134230
Exacrs386134230
Varsomers386134230
Maprs386134230
PheGenIrs386134230
hapmaprs386134230
1000 genomesrs386134230
hgdprs386134230
ensemblrs386134230
gopubmedrs386134230
geneviewrs386134230
scholarrs386134230
googlers386134230
pharmgkbrs386134230
gwascentralrs386134230
openSNPrs386134230
23andMers386134230
23andMe allrs386134230
SNP Nexus

SNPshotrs386134230
SNPdbers386134230
MSV3drs386134230
GWAS Ctlgrs386134230
Max Magnitude3
ClinVar
Risk rs386134230(A;A)
Alt rs386134230(A;A)
Reference rs386134230(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117246728G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000046718.3,