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rs77101217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs77101217(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559548
GeneCFTR
is asnp
is mentioned by
dbSNPrs77101217
ebirs77101217
HLIrs77101217
Exacrs77101217
Varsomers77101217
Maprs77101217
PheGenIrs77101217
hapmaprs77101217
1000 genomesrs77101217
hgdprs77101217
ensemblrs77101217
gopubmedrs77101217
geneviewrs77101217
scholarrs77101217
googlers77101217
pharmgkbrs77101217
gwascentralrs77101217
openSNPrs77101217
23andMers77101217
23andMe allrs77101217
SNP Nexus

SNPshotrs77101217
SNPdbers77101217
MSV3drs77101217
GWAS Ctlgrs77101217
Max Magnitude3

Cystic fibrosis; c.1477C>T, p.Gln493Ter

named i5006047 and i5011248 by 23andMe

OMIM602421
Desc
Variant0003
Relatedalso
ClinVar
Risk rs77101217(T;T)
Alt rs77101217(T;T)
Reference rs77101217(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199602C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007526.5,