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rs397508536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 carrier of a cystic fibrosis allele
Make rs397508536(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611745
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508536
dbSNP (classic)rs397508536
ClinGenrs397508536
ebirs397508536
HLIrs397508536
Exacrs397508536
Gnomadrs397508536
Varsomers397508536
LitVarrs397508536
Maprs397508536
PheGenIrs397508536
Biobankrs397508536
1000 genomesrs397508536
hgdprs397508536
ensemblrs397508536
geneviewrs397508536
scholarrs397508536
googlers397508536
pharmgkbrs397508536
gwascentralrs397508536
openSNPrs397508536
23andMers397508536
SNPshotrs397508536
SNPdbers397508536
MSV3drs397508536
GWAS Ctlgrs397508536
Max Magnitude3
ClinVar
Risk rs397508536(T;T)
Alt rs397508536(T;T)
Reference Rs397508536(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117251799A>T
CLNSRC CFTR2
CLNACC RCV000046861.3,