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rs397508276

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 3 Carrier of a cystic fibrosis allele, of varying clinical signifance
(T;T) 0 common in clinvar
Make rs397508276(C;C)
Make rs397508276(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117590378
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508276
ebirs397508276
HLIrs397508276
Exacrs397508276
Varsomers397508276
Maprs397508276
PheGenIrs397508276
hapmaprs397508276
1000 genomesrs397508276
hgdprs397508276
ensemblrs397508276
gopubmedrs397508276
geneviewrs397508276
scholarrs397508276
googlers397508276
pharmgkbrs397508276
gwascentralrs397508276
openSNPrs397508276
23andMers397508276
23andMe allrs397508276
SNP Nexus

SNPshotrs397508276
SNPdbers397508276
MSV3drs397508276
GWAS Ctlgrs397508276
Max Magnitude3

Cystic fibrosis; Tyr569His and Tyr569Asp. CFTR2 database indicates these variants are of "varying clinical significance".

named i5011380 and i5011381 by 23andMe

ClinVar
Risk rs397508276(C,G;C,G)
Alt rs397508276(C,G;C,G)
Reference rs397508276(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117230432T>C; NC_000007.13:g.117230432T>G
CLNSRC CFTR2
CLNACC RCV000046433.2, RCV000046434.3,