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rs193922518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 cystic fibrosis carrier (most likely)
Make rs193922518(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530980
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922518
ebirs193922518
HLIrs193922518
Exacrs193922518
Varsomers193922518
Maprs193922518
PheGenIrs193922518
hapmaprs193922518
1000 genomesrs193922518
hgdprs193922518
ensemblrs193922518
gopubmedrs193922518
geneviewrs193922518
scholarrs193922518
googlers193922518
pharmgkbrs193922518
gwascentralrs193922518
openSNPrs193922518
23andMers193922518
23andMe allrs193922518
SNP Nexus

SNPshotrs193922518
SNPdbers193922518
MSV3drs193922518
GWAS Ctlgrs193922518
Max Magnitude3
ClinVar
Risk rs193922518(G;G)
Alt rs193922518(G;G)
Reference rs193922518(A;A)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117171034A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029525.1,