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rs121908783

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 3 cystic fibrosis carrier
(T;T) 0 common in clinvar


Make rs121908783(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627744
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908783
ebirs121908783
HLIrs121908783
Exacrs121908783
Varsomers121908783
Maprs121908783
PheGenIrs121908783
hapmaprs121908783
1000 genomesrs121908783
hgdprs121908783
ensemblrs121908783
gopubmedrs121908783
geneviewrs121908783
scholarrs121908783
googlers121908783
pharmgkbrs121908783
gwascentralrs121908783
openSNPrs121908783
23andMers121908783
23andMe allrs121908783
SNP Nexus

SNPshotrs121908783
SNPdbers121908783
MSV3drs121908783
GWAS Ctlgrs121908783
Max Magnitude3

Cystic fibrosis; c.3691delT, p.Ser1231Profs

named i5011973 and i5053855 by 23andMe

ClinVar
Risk rs121908783(;)
Alt rs121908783(;)
Reference rs121908783(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267798delT
CLNSRC CFTR2
CLNACC RCV000029526.3,



[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.


[PMID 16454991] A novel CFTR mutation found in a Chinese patient with cystic fibrosis.

OMIM602421
Desc
Variant
Relatedalso