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rs397508761

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3.1 possible cystic fibrosis carrier
(A;G) 3 carrier of a cystic fibrosis allele
Make rs397508761(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117534368
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508761
ebirs397508761
HLIrs397508761
Exacrs397508761
Varsomers397508761
Maprs397508761
PheGenIrs397508761
hapmaprs397508761
1000 genomesrs397508761
hgdprs397508761
ensemblrs397508761
gopubmedrs397508761
geneviewrs397508761
scholarrs397508761
googlers397508761
pharmgkbrs397508761
gwascentralrs397508761
openSNPrs397508761
23andMers397508761
23andMe allrs397508761
SNP Nexus

SNPshotrs397508761
SNPdbers397508761
MSV3drs397508761
GWAS Ctlgrs397508761
Max Magnitude3.1

Cystic fibrosis; c.579+3A>G

named i5010948, i5010949 and i5010950 by 23andMe

ClinVar
Risk rs397508761(C,G,T;C,G,T)
Alt rs397508761(C,G,T;C,G,T)
Reference rs397508761(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117174422A>C; NC_000007.13:g.117174422A>G; NC_000007.13:g.117174422A>T
CLNSRC CFTR2
CLNACC RCV000047202.2, RCV000056396.3, RCV000047204.2,