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rs397508294

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 3 carrier of a cystic fibrosis allele
Make rs397508294(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117509043
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508294
dbSNP (classic)rs397508294
ClinGenrs397508294
ebirs397508294
HLIrs397508294
Exacrs397508294
Gnomadrs397508294
Varsomers397508294
LitVarrs397508294
Maprs397508294
PheGenIrs397508294
Biobankrs397508294
1000 genomesrs397508294
hgdprs397508294
ensemblrs397508294
geneviewrs397508294
scholarrs397508294
googlers397508294
pharmgkbrs397508294
gwascentralrs397508294
openSNPrs397508294
23andMers397508294
SNPshotrs397508294
SNPdbers397508294
MSV3drs397508294
GWAS Ctlgrs397508294
Max Magnitude3

Cystic fibrosis; c.174_175insA

named i5010736 by 23andMe

ClinVar
Risk rs397508294(A;A)
Alt rs397508294(A;A)
Reference Rs397508294(-;-)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117149098dupA
CLNSRC CFTR2
CLNACC RCV000046458.3,