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rs193922533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier (most likely)
Make rs193922533(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540227
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922533
ebirs193922533
HLIrs193922533
Exacrs193922533
Varsomers193922533
Maprs193922533
PheGenIrs193922533
hapmaprs193922533
1000 genomesrs193922533
hgdprs193922533
ensemblrs193922533
gopubmedrs193922533
geneviewrs193922533
scholarrs193922533
googlers193922533
pharmgkbrs193922533
gwascentralrs193922533
openSNPrs193922533
23andMers193922533
23andMe allrs193922533
SNP Nexus

SNPshotrs193922533
SNPdbers193922533
MSV3drs193922533
GWAS Ctlgrs193922533
Max Magnitude3
ClinVar
Risk rs193922533(T;T)
Alt rs193922533(T;T)
Reference rs193922533(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180281C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029550.1,