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rs397508173

From SNPedia

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


Make rs397508173(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117480105
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508173
dbSNP (classic)rs397508173
ClinGenrs397508173
ebirs397508173
HLIrs397508173
Exacrs397508173
Gnomadrs397508173
Varsomers397508173
LitVarrs397508173
Maprs397508173
PheGenIrs397508173
Biobankrs397508173
1000 genomesrs397508173
hgdprs397508173
ensemblrs397508173
geneviewrs397508173
scholarrs397508173
googlers397508173
pharmgkbrs397508173
gwascentralrs397508173
openSNPrs397508173
23andMers397508173
SNPshotrs397508173
SNPdbers397508173
MSV3drs397508173
GWAS Ctlgrs397508173
Max Magnitude3
ClinVar
Risk rs397508173(A;A) rs397508173(T;T)
Alt rs397508173(A;A) rs397508173(T;T)
Reference Rs397508173(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117120159C>A
CLNSRC CFTR2
CLNACC RCV000046255.3,