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rs193922522

From SNPedia

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


Make rs193922522(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117652861
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922522
ebirs193922522
HLIrs193922522
Exacrs193922522
Varsomers193922522
Maprs193922522
PheGenIrs193922522
hapmaprs193922522
1000 genomesrs193922522
hgdprs193922522
ensemblrs193922522
gopubmedrs193922522
geneviewrs193922522
scholarrs193922522
googlers193922522
pharmgkbrs193922522
gwascentralrs193922522
openSNPrs193922522
23andMers193922522
23andMe allrs193922522
SNP Nexus

SNPshotrs193922522
SNPdbers193922522
MSV3drs193922522
GWAS Ctlgrs193922522
Max Magnitude3
ClinVar
Risk rs193922522(C;C)
Alt rs193922522(C;C)
Reference rs193922522(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117292915G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029533.2,