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rs397508685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 3 carrier of a cystic fibrosis allele
Make rs397508685(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117665469
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508685
dbSNP (classic)rs397508685
ClinGenrs397508685
ebirs397508685
HLIrs397508685
Exacrs397508685
Gnomadrs397508685
Varsomers397508685
LitVarrs397508685
Maprs397508685
PheGenIrs397508685
Biobankrs397508685
1000 genomesrs397508685
hgdprs397508685
ensemblrs397508685
geneviewrs397508685
scholarrs397508685
googlers397508685
pharmgkbrs397508685
gwascentralrs397508685
openSNPrs397508685
23andMers397508685
SNPshotrs397508685
SNPdbers397508685
MSV3drs397508685
GWAS Ctlgrs397508685
Max Magnitude3
ClinVar
Risk rs397508685(A;A)
Alt rs397508685(A;A)
Reference Rs397508685(-;-)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117305523dupA
CLNSRC CFTR2
CLNACC RCV000047088.5,