Have questions? Visit https://www.reddit.com/r/SNPedia

rs76554633

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs76554633(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587808
GeneCFTR
is asnp
is mentioned by
dbSNPrs76554633
ebirs76554633
HLIrs76554633
Exacrs76554633
Varsomers76554633
Maprs76554633
PheGenIrs76554633
hapmaprs76554633
1000 genomesrs76554633
hgdprs76554633
ensemblrs76554633
gopubmedrs76554633
geneviewrs76554633
scholarrs76554633
googlers76554633
pharmgkbrs76554633
gwascentralrs76554633
openSNPrs76554633
23andMers76554633
23andMe allrs76554633
SNP Nexus

SNPshotrs76554633
SNPdbers76554633
MSV3drs76554633
GWAS Ctlgrs76554633
Max Magnitude3

Cystic fibrosis; c.1654C>T, p.Gln552Ter

named i5006110 and i5011332 by 23andMe

OMIM602421
Desc
Variant0096
Relatedalso
ClinVar
Risk rs76554633(T;T)
Alt rs76554633(T;T)
Reference rs76554633(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117227862C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007622.5,