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rs193922514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 cystic fibrosis carrier (most likely)
Make rs193922514(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117606697
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922514
ebirs193922514
HLIrs193922514
Exacrs193922514
Varsomers193922514
Maprs193922514
PheGenIrs193922514
hapmaprs193922514
1000 genomesrs193922514
hgdprs193922514
ensemblrs193922514
gopubmedrs193922514
geneviewrs193922514
scholarrs193922514
googlers193922514
pharmgkbrs193922514
gwascentralrs193922514
openSNPrs193922514
23andMers193922514
23andMe allrs193922514
SNP Nexus

SNPshotrs193922514
SNPdbers193922514
MSV3drs193922514
GWAS Ctlgrs193922514
Max Magnitude3
ClinVar
Risk rs193922514(T;T)
Alt rs193922514(T;T)
Reference rs193922514(A;A)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117246751A>T
CLNSRC ClinVar
CLNACC RCV000029510.2,