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rs397508174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs397508174(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117542101
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508174
dbSNP (old)rs397508174
ClinGenrs397508174
ebirs397508174
HLIrs397508174
Exacrs397508174
Gnomadrs397508174
Varsomers397508174
Maprs397508174
PheGenIrs397508174
Biobankrs397508174
1000 genomesrs397508174
hgdprs397508174
ensemblrs397508174
gopubmedrs397508174
geneviewrs397508174
scholarrs397508174
googlers397508174
pharmgkbrs397508174
gwascentralrs397508174
openSNPrs397508174
23andMers397508174
23andMe allrs397508174
SNP Nexus

SNPshotrs397508174
SNPdbers397508174
MSV3drs397508174
GWAS Ctlgrs397508174
Max Magnitude3

Cystic fibrosis; c.1202G>A, p.Trp401Ter

named i5011161 by 23andMe

ClinVar
Risk rs397508174(A;A) rs397508174(T;T)
Alt rs397508174(A;A) rs397508174(T;T)
Reference Rs397508174(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117182155G>A
CLNSRC CFTR2
CLNACC RCV000056343.3,