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rs193922523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;AGGG) 3 cystic fibrosis carrier (most likely)
Make rs193922523(-;-)
Make rs193922523(AGGG;AGGG)
ReferenceGRCh38 38.1/141
Chromosome7
Position117652925
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922523
ebirs193922523
HLIrs193922523
Exacrs193922523
Varsomers193922523
Maprs193922523
PheGenIrs193922523
hapmaprs193922523
1000 genomesrs193922523
hgdprs193922523
ensemblrs193922523
gopubmedrs193922523
geneviewrs193922523
scholarrs193922523
googlers193922523
pharmgkbrs193922523
gwascentralrs193922523
openSNPrs193922523
23andMers193922523
23andMe allrs193922523
SNP Nexus

SNPshotrs193922523
SNPdbers193922523
MSV3drs193922523
GWAS Ctlgrs193922523
Max Magnitude3
ClinVar
Risk rs193922523(AGGG;AGGG)
Alt rs193922523(AGGG;AGGG)
Reference rs193922523(;)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117292979_117292980insAGGG
CLNSRC ClinVar LabCorp
CLNACC RCV000029534.2,