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rs397508778

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs397508778(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117535326
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508778
ebirs397508778
HLIrs397508778
Exacrs397508778
Varsomers397508778
Maprs397508778
PheGenIrs397508778
hapmaprs397508778
1000 genomesrs397508778
hgdprs397508778
ensemblrs397508778
gopubmedrs397508778
geneviewrs397508778
scholarrs397508778
googlers397508778
pharmgkbrs397508778
gwascentralrs397508778
openSNPrs397508778
23andMers397508778
23andMe allrs397508778
SNP Nexus

SNPshotrs397508778
SNPdbers397508778
MSV3drs397508778
GWAS Ctlgrs397508778
Max Magnitude3

Cystic fibrosis; c.658C>T, Gln220Ter or Q220X

named i5010980 by 23andMe

ClinVar
Risk rs397508778(T;T)
Alt rs397508778(T;T)
Reference rs397508778(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117175380C>T
CLNSRC CFTR2
CLNACC RCV000056401.3,