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rs397508683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397508683(A;A)
Make rs397508683(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117665465
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508683
dbSNP (classic)rs397508683
ClinGenrs397508683
ebirs397508683
HLIrs397508683
Exacrs397508683
Gnomadrs397508683
Varsomers397508683
LitVarrs397508683
Maprs397508683
PheGenIrs397508683
Biobankrs397508683
1000 genomesrs397508683
hgdprs397508683
ensemblrs397508683
geneviewrs397508683
scholarrs397508683
googlers397508683
pharmgkbrs397508683
gwascentralrs397508683
openSNPrs397508683
23andMers397508683
SNPshotrs397508683
SNPdbers397508683
MSV3drs397508683
GWAS Ctlgrs397508683
Max Magnitude0
ClinVar
Risk rs397508683(A;A) rs397508683(G;G)
Alt rs397508683(A;A) rs397508683(G;G)
Reference Rs397508683(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117305519C>A; NC_000007.13:g.117305519C>G
CLNSRC ClinVar
CLNACC RCV000047086.2, RCV000412126.1,