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rs193922521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;TAT) 3 cystic fibrosis carrier (most likely)
Make rs193922521(-;-)
Make rs193922521(TAT;TAT)
ReferenceGRCh38 38.1/141
Chromosome7
Position117531007
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922521
ebirs193922521
HLIrs193922521
Exacrs193922521
Varsomers193922521
Maprs193922521
PheGenIrs193922521
hapmaprs193922521
1000 genomesrs193922521
hgdprs193922521
ensemblrs193922521
gopubmedrs193922521
geneviewrs193922521
scholarrs193922521
googlers193922521
pharmgkbrs193922521
gwascentralrs193922521
openSNPrs193922521
23andMers193922521
23andMe allrs193922521
SNP Nexus

SNPshotrs193922521
SNPdbers193922521
MSV3drs193922521
GWAS Ctlgrs193922521
Max Magnitude3
ClinVar
Risk rs193922521(TTA;TTA)
Alt rs193922521(TTA;TTA)
Reference rs193922521(;)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117171059_117171061dupTAT
CLNSRC ClinVar
CLNACC RCV000029532.1,