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rs193922519

From SNPedia

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


Make rs193922519(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530995
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922519
ebirs193922519
HLIrs193922519
Exacrs193922519
Varsomers193922519
Maprs193922519
PheGenIrs193922519
hapmaprs193922519
1000 genomesrs193922519
hgdprs193922519
ensemblrs193922519
gopubmedrs193922519
geneviewrs193922519
scholarrs193922519
googlers193922519
pharmgkbrs193922519
gwascentralrs193922519
openSNPrs193922519
23andMers193922519
23andMe allrs193922519
SNP Nexus

SNPshotrs193922519
SNPdbers193922519
MSV3drs193922519
GWAS Ctlgrs193922519
Max Magnitude3
ClinVar
Risk rs193922519(C;C)
Alt rs193922519(C;C)
Reference rs193922519(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117171049G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029528.1,