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rs672601315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs672601315(A;A)
Make rs672601315(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position117603574
GeneCFTR
is asnp
is mentioned by
dbSNPrs672601315
dbSNP (classic)rs672601315
ClinGenrs672601315
ebirs672601315
HLIrs672601315
Exacrs672601315
Gnomadrs672601315
Varsomers672601315
LitVarrs672601315
Maprs672601315
PheGenIrs672601315
Biobankrs672601315
1000 genomesrs672601315
hgdprs672601315
ensemblrs672601315
geneviewrs672601315
scholarrs672601315
googlers672601315
pharmgkbrs672601315
gwascentralrs672601315
openSNPrs672601315
23andMers672601315
SNPshotrs672601315
SNPdbers672601315
MSV3drs672601315
GWAS Ctlgrs672601315
Max Magnitude0
ClinVar
Risk rs672601315(A;A) rs672601315(C;C)
Alt rs672601315(A;A) rs672601315(C;C)
Reference Rs672601315(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243628T>A
CLNSRC
CLNACC RCV000149422.1,