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rs397508144

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 cystic fibrosis carrier
(T;T) 0 common in clinvar


Make rs397508144(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540251
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508144
ebirs397508144
HLIrs397508144
Exacrs397508144
Varsomers397508144
Maprs397508144
PheGenIrs397508144
hapmaprs397508144
1000 genomesrs397508144
hgdprs397508144
ensemblrs397508144
gopubmedrs397508144
geneviewrs397508144
scholarrs397508144
googlers397508144
pharmgkbrs397508144
gwascentralrs397508144
openSNPrs397508144
23andMers397508144
23andMe allrs397508144
SNP Nexus

SNPshotrs397508144
SNPdbers397508144
MSV3drs397508144
GWAS Ctlgrs397508144
Max Magnitude3

Cystic fibrosis; c.1021T>C, Ser341Pro or S341P


ClinVar
Risk rs397508144(C;C)
Alt rs397508144(C;C)
Reference rs397508144(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180305T>C
CLNSRC CFTR2
CLNACC RCV000056338.3,