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rs193922524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier (most likely)
Make rs193922524(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117664721
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922524
dbSNP (old)rs193922524
ClinGenrs193922524
ebirs193922524
HLIrs193922524
Exacrs193922524
Gnomadrs193922524
Varsomers193922524
Maprs193922524
PheGenIrs193922524
Biobankrs193922524
1000 genomesrs193922524
hgdprs193922524
ensemblrs193922524
gopubmedrs193922524
geneviewrs193922524
scholarrs193922524
googlers193922524
pharmgkbrs193922524
gwascentralrs193922524
openSNPrs193922524
23andMers193922524
23andMe allrs193922524
SNP Nexus

SNPshotrs193922524
SNPdbers193922524
MSV3drs193922524
GWAS Ctlgrs193922524
Max Magnitude3
ClinVar
Risk rs193922524(T;T)
Alt rs193922524(T;T)
Reference Rs193922524(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117304775G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029535.1,