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rs397508742

From SNPedia

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


Make rs397508742(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117480144
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508742
dbSNP (classic)rs397508742
ClinGenrs397508742
ebirs397508742
HLIrs397508742
Exacrs397508742
Gnomadrs397508742
Varsomers397508742
LitVarrs397508742
Maprs397508742
PheGenIrs397508742
Biobankrs397508742
1000 genomesrs397508742
hgdprs397508742
ensemblrs397508742
geneviewrs397508742
scholarrs397508742
googlers397508742
pharmgkbrs397508742
gwascentralrs397508742
openSNPrs397508742
23andMers397508742
SNPshotrs397508742
SNPdbers397508742
MSV3drs397508742
GWAS Ctlgrs397508742
Max Magnitude3
ClinVar
Risk rs397508742(-;-)
Alt rs397508742(-;-)
Reference Rs397508742(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117120198delT
CLNSRC CFTR2
CLNACC RCV000047175.3,