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rs1057516794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516794(-;-)
Make rs1057516794(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117610670
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057516794
dbSNP (old)rs1057516794
ClinGenrs1057516794
ebirs1057516794
HLIrs1057516794
Exacrs1057516794
Gnomadrs1057516794
Varsomers1057516794
LitVarrs1057516794
Maprs1057516794
PheGenIrs1057516794
Biobankrs1057516794
1000 genomesrs1057516794
hgdprs1057516794
ensemblrs1057516794
gopubmedrs1057516794
geneviewrs1057516794
scholarrs1057516794
googlers1057516794
pharmgkbrs1057516794
gwascentralrs1057516794
openSNPrs1057516794
23andMers1057516794
23andMe allrs1057516794
SNPshotrs1057516794
SNPdbers1057516794
MSV3drs1057516794
GWAS Ctlgrs1057516794
Max Magnitude0
ClinVar
Risk rs1057516794(-;-)
Alt rs1057516794(-;-)
Reference Rs1057516794(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117250724delG
CLNSRC
CLNACC RCV000411144.1,