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rs397508629

From SNPedia

Merged intors387906373
Orientationplus
Stabilizedplus
Geno Mag Summary
(ATTT;ATTT) 0 common in clinvar
(TATT;TATT) 0 common in clinvar
Make rs397508629(-;-)
Make rs397508629(-;ATTT)
ReferenceGRCh38 38.1/141
Chromosome7
Position117652851
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508629
dbSNP (classic)rs397508629
ClinGenrs397508629
ebirs397508629
HLIrs397508629
Exacrs397508629
Gnomadrs397508629
Varsomers397508629
LitVarrs397508629
Maprs397508629
PheGenIrs397508629
Biobankrs397508629
1000 genomesrs397508629
hgdprs397508629
ensemblrs397508629
geneviewrs397508629
scholarrs397508629
googlers397508629
pharmgkbrs397508629
gwascentralrs397508629
openSNPrs397508629
23andMers397508629
SNPshotrs397508629
SNPdbers397508629
MSV3drs397508629
GWAS Ctlgrs397508629
StatusMerged into rs387906373
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs397508629(TATT;TATT)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117292905_117292908delATTT
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000047015.5,