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rs1800123

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs1800123(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627712
GeneCFTR
is asnp
is mentioned by
dbSNPrs1800123
ebirs1800123
HLIrs1800123
Exacrs1800123
Varsomers1800123
Maprs1800123
PheGenIrs1800123
hapmaprs1800123
1000 genomesrs1800123
hgdprs1800123
ensemblrs1800123
gopubmedrs1800123
geneviewrs1800123
scholarrs1800123
googlers1800123
pharmgkbrs1800123
gwascentralrs1800123
openSNPrs1800123
23andMers1800123
23andMe allrs1800123
SNP Nexus

SNPshotrs1800123
SNPdbers1800123
MSV3drs1800123
GWAS Ctlgrs1800123
GMAF0.0004591
Max Magnitude3

Cystic fibrosis; c.3659C>T, p,Thr1220Ile

named i5011969 and i3002449 by 23andMe

OMIM602421
Desc
Variant0109
Relatedalso
ClinVar
Risk rs1800123(T;T)
Alt rs1800123(T;T)
Reference rs1800123(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267766C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007635.2,


[PMID 18716917OA-icon.png] A novel computational and structural analysis of nsSNPs in CFTR gene.