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rs397508472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATTA;ATTA) 0 common in clinvar
Make rs397508472(-;-)
Make rs397508472(-;ATTA)
ReferenceGRCh38 38.1/141
Chromosome7
Position117610524
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508472
dbSNP (classic)rs397508472
ClinGenrs397508472
ebirs397508472
HLIrs397508472
Exacrs397508472
Gnomadrs397508472
Varsomers397508472
LitVarrs397508472
Maprs397508472
PheGenIrs397508472
Biobankrs397508472
1000 genomesrs397508472
hgdprs397508472
ensemblrs397508472
geneviewrs397508472
scholarrs397508472
googlers397508472
pharmgkbrs397508472
gwascentralrs397508472
openSNPrs397508472
23andMers397508472
SNPshotrs397508472
SNPdbers397508472
MSV3drs397508472
GWAS Ctlgrs397508472
Merged fromRs397508473
Max Magnitude0
ClinVar
Risk rs397508472(-;-) rs397508472(AATT;AATT)
Alt rs397508472(-;-) rs397508472(AATT;AATT)
Reference Rs397508472(ATTA;ATTA)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117250581_117250584delAATT
CLNSRC ClinVar
CLNACC RCV000046747.4,