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rs397508631

From SNPedia

Merged intors121908808
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 3 carrier of a cystic fibrosis allele
Make rs397508631(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117652857
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508631
dbSNP (classic)rs397508631
ClinGenrs397508631
ebirs397508631
HLIrs397508631
Exacrs397508631
Gnomadrs397508631
Varsomers397508631
LitVarrs397508631
Maprs397508631
PheGenIrs397508631
Biobankrs397508631
1000 genomesrs397508631
hgdprs397508631
ensemblrs397508631
geneviewrs397508631
scholarrs397508631
googlers397508631
pharmgkbrs397508631
gwascentralrs397508631
openSNPrs397508631
23andMers397508631
SNPshotrs397508631
SNPdbers397508631
MSV3drs397508631
GWAS Ctlgrs397508631
StatusMerged into rs121908808
Max Magnitude3
ClinVar
Risk rs397508631(T;T)
Alt rs397508631(T;T)
Reference Rs397508631(;)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117292911dupT
CLNSRC CFTR2
CLNACC RCV000047018.4,