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rs193922516

From SNPedia

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


Make rs193922516(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117610568
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922516
ebirs193922516
HLIrs193922516
Exacrs193922516
Varsomers193922516
Maprs193922516
PheGenIrs193922516
hapmaprs193922516
1000 genomesrs193922516
hgdprs193922516
ensemblrs193922516
gopubmedrs193922516
geneviewrs193922516
scholarrs193922516
googlers193922516
pharmgkbrs193922516
gwascentralrs193922516
openSNPrs193922516
23andMers193922516
23andMe allrs193922516
SNP Nexus

SNPshotrs193922516
SNPdbers193922516
MSV3drs193922516
GWAS Ctlgrs193922516
Max Magnitude3
ClinVar
Risk rs193922516(A,G,T;A,G,T)
Alt rs193922516(A,G,T;A,G,T)
Reference rs193922516(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117250622C>A; NC_000007.13:g.117250622C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029514.1, RCV000046763.2,