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rs397508451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 3 carrier of a cystic fibrosis allele
(A;A) 0 common in clinvar


Make rs397508451(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603770
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508451
dbSNP (classic)rs397508451
ClinGenrs397508451
ebirs397508451
HLIrs397508451
Exacrs397508451
Gnomadrs397508451
Varsomers397508451
LitVarrs397508451
Maprs397508451
PheGenIrs397508451
Biobankrs397508451
1000 genomesrs397508451
hgdprs397508451
ensemblrs397508451
geneviewrs397508451
scholarrs397508451
googlers397508451
pharmgkbrs397508451
gwascentralrs397508451
openSNPrs397508451
23andMers397508451
SNPshotrs397508451
SNPdbers397508451
MSV3drs397508451
GWAS Ctlgrs397508451
Max Magnitude3
ClinVar
Risk rs397508451(-;-)
Alt rs397508451(-;-)
Reference Rs397508451(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243824delA
CLNSRC CFTR2
CLNACC RCV000046710.3,