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rs1057516415

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516415(-;-)
Make rs1057516415(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117610523
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057516415
dbSNP (old)rs1057516415
ClinGenrs1057516415
ebirs1057516415
HLIrs1057516415
Exacrs1057516415
Gnomadrs1057516415
Varsomers1057516415
Maprs1057516415
PheGenIrs1057516415
Biobankrs1057516415
1000 genomesrs1057516415
hgdprs1057516415
ensemblrs1057516415
gopubmedrs1057516415
geneviewrs1057516415
scholarrs1057516415
googlers1057516415
pharmgkbrs1057516415
gwascentralrs1057516415
openSNPrs1057516415
23andMers1057516415
23andMe allrs1057516415
SNPshotrs1057516415
SNPdbers1057516415
MSV3drs1057516415
GWAS Ctlgrs1057516415
Max Magnitude0
ClinVar
Risk rs1057516415(-;-)
Alt rs1057516415(-;-)
Reference Rs1057516415(T;T)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117250577delT
CLNSRC
CLNACC RCV000412107.1,