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rs397508500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs397508500(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117610654
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508500
dbSNP (classic)rs397508500
ClinGenrs397508500
ebirs397508500
HLIrs397508500
Exacrs397508500
Gnomadrs397508500
Varsomers397508500
LitVarrs397508500
Maprs397508500
PheGenIrs397508500
Biobankrs397508500
1000 genomesrs397508500
hgdprs397508500
ensemblrs397508500
geneviewrs397508500
scholarrs397508500
googlers397508500
pharmgkbrs397508500
gwascentralrs397508500
openSNPrs397508500
23andMers397508500
SNPshotrs397508500
SNPdbers397508500
MSV3drs397508500
GWAS Ctlgrs397508500
Max Magnitude3
ClinVar
Risk rs397508500(T;T)
Alt rs397508500(T;T)
Reference Rs397508500(C;C)
Significance Untested
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117250708C>T
CLNSRC ClinVar
CLNACC RCV000046785.2,