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rs193922509

From SNPedia

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


Make rs193922509(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603642
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922509
ebirs193922509
HLIrs193922509
Exacrs193922509
Varsomers193922509
Maprs193922509
PheGenIrs193922509
hapmaprs193922509
1000 genomesrs193922509
hgdprs193922509
ensemblrs193922509
gopubmedrs193922509
geneviewrs193922509
scholarrs193922509
googlers193922509
pharmgkbrs193922509
gwascentralrs193922509
openSNPrs193922509
23andMers193922509
23andMe allrs193922509
SNP Nexus

SNPshotrs193922509
SNPdbers193922509
MSV3drs193922509
GWAS Ctlgrs193922509
Max Magnitude3
ClinVar
Risk rs193922509(A;A)
Alt rs193922509(A;A)
Reference rs193922509(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243696C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029503.1,


[PMID 19019984OA-icon.png] Sequence-specific retention and regulated integration of a nascent membrane protein by the endoplasmic reticulum Sec61 translocon.