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rs397508782

From SNPedia

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


Make rs397508782(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117535348
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508782
dbSNP (classic)rs397508782
ClinGenrs397508782
ebirs397508782
HLIrs397508782
Exacrs397508782
Gnomadrs397508782
Varsomers397508782
LitVarrs397508782
Maprs397508782
PheGenIrs397508782
Biobankrs397508782
1000 genomesrs397508782
hgdprs397508782
ensemblrs397508782
geneviewrs397508782
scholarrs397508782
googlers397508782
pharmgkbrs397508782
gwascentralrs397508782
openSNPrs397508782
23andMers397508782
SNPshotrs397508782
SNPdbers397508782
MSV3drs397508782
GWAS Ctlgrs397508782
Max Magnitude3
ClinVar
Risk rs397508782(G;G)
Alt rs397508782(G;G)
Reference Rs397508782(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117175402T>G
CLNSRC CFTR2
CLNACC RCV000047234.3,