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rs397508201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a cystic fibrosis allele
Make rs397508201(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559462
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508201
dbSNP (classic)rs397508201
ClinGenrs397508201
ebirs397508201
HLIrs397508201
Exacrs397508201
Gnomadrs397508201
Varsomers397508201
LitVarrs397508201
Maprs397508201
PheGenIrs397508201
Biobankrs397508201
1000 genomesrs397508201
hgdprs397508201
ensemblrs397508201
geneviewrs397508201
scholarrs397508201
googlers397508201
pharmgkbrs397508201
gwascentralrs397508201
openSNPrs397508201
23andMers397508201
SNPshotrs397508201
SNPdbers397508201
MSV3drs397508201
GWAS Ctlgrs397508201
Max Magnitude3
ClinVar
Risk rs397508201(G;G)
Alt rs397508201(G;G)
Reference Rs397508201(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199516A>G
CLNSRC CFTR2
CLNACC RCV000046291.4,