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rs121908800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908800(A;A)
Make rs121908800(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117504365
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908800
ebirs121908800
HLIrs121908800
Exacrs121908800
Varsomers121908800
Maprs121908800
PheGenIrs121908800
hapmaprs121908800
1000 genomesrs121908800
hgdprs121908800
ensemblrs121908800
gopubmedrs121908800
geneviewrs121908800
scholarrs121908800
googlers121908800
pharmgkbrs121908800
gwascentralrs121908800
openSNPrs121908800
23andMers121908800
23andMe allrs121908800
SNP Nexus

SNPshotrs121908800
SNPdbers121908800
MSV3drs121908800
GWAS Ctlgrs121908800
Max Magnitude0
ClinVar
Risk rs121908800(A,C,G;A,C,G)
Alt rs121908800(A,C,G;A,C,G)
Reference rs121908800(T;T)
Significance Untested
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117144419T>A; NC_000007.13:g.117144419T>C; NC_000007.13:g.117144419T>G
CLNSRC ClinVar
CLNACC RCV000144411.1, RCV000046370.2, RCV000046371.2,



[PMID 9482579] Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).