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rs397508701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs397508701(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117665553
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508701
dbSNP (classic)rs397508701
ClinGenrs397508701
ebirs397508701
HLIrs397508701
Exacrs397508701
Gnomadrs397508701
Varsomers397508701
LitVarrs397508701
Maprs397508701
PheGenIrs397508701
Biobankrs397508701
1000 genomesrs397508701
hgdprs397508701
ensemblrs397508701
geneviewrs397508701
scholarrs397508701
googlers397508701
pharmgkbrs397508701
gwascentralrs397508701
openSNPrs397508701
23andMers397508701
SNPshotrs397508701
SNPdbers397508701
MSV3drs397508701
GWAS Ctlgrs397508701
Max Magnitude3
ClinVar
Risk rs397508701(T;T)
Alt rs397508701(T;T)
Reference Rs397508701(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117305607C>T
CLNSRC CFTR2
CLNACC RCV000047110.3,