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rs193922528

From SNPedia

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


Make rs193922528(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117666945
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922528
ebirs193922528
HLIrs193922528
Exacrs193922528
Varsomers193922528
Maprs193922528
PheGenIrs193922528
hapmaprs193922528
1000 genomesrs193922528
hgdprs193922528
ensemblrs193922528
gopubmedrs193922528
geneviewrs193922528
scholarrs193922528
googlers193922528
pharmgkbrs193922528
gwascentralrs193922528
openSNPrs193922528
23andMers193922528
23andMe allrs193922528
SNP Nexus

SNPshotrs193922528
SNPdbers193922528
MSV3drs193922528
GWAS Ctlgrs193922528
Max Magnitude3
ClinVar
Risk rs193922528(C;C)
Alt rs193922528(C;C)
Reference rs193922528(T;T)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117306999T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029541.1,