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rs374946172

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs374946172(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592520
GeneCFTR
is asnp
is mentioned by
dbSNPrs374946172
ebirs374946172
HLIrs374946172
Exacrs374946172
Varsomers374946172
Maprs374946172
PheGenIrs374946172
hapmaprs374946172
1000 genomesrs374946172
hgdprs374946172
ensemblrs374946172
gopubmedrs374946172
geneviewrs374946172
scholarrs374946172
googlers374946172
pharmgkbrs374946172
gwascentralrs374946172
openSNPrs374946172
23andMers374946172
23andMe allrs374946172
SNP Nexus

SNPshotrs374946172
SNPdbers374946172
MSV3drs374946172
GWAS Ctlgrs374946172
Max Magnitude3

Cystic fibrosis; c.2353C>T, p.Arg785Ter

named i5011540 by 23andMe

ClinVar
Risk rs374946172(T;T)
Alt rs374946172(T;T)
Reference rs374946172(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232574C>T
CLNSRC CFTR2
CLNACC RCV000046582.3,