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rs1057516619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516619(A;T)
Make rs1057516619(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117536669
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057516619
dbSNP (old)rs1057516619
ClinGenrs1057516619
ebirs1057516619
HLIrs1057516619
Exacrs1057516619
Gnomadrs1057516619
Varsomers1057516619
LitVarrs1057516619
Maprs1057516619
PheGenIrs1057516619
Biobankrs1057516619
1000 genomesrs1057516619
hgdprs1057516619
ensemblrs1057516619
gopubmedrs1057516619
geneviewrs1057516619
scholarrs1057516619
googlers1057516619
pharmgkbrs1057516619
gwascentralrs1057516619
openSNPrs1057516619
23andMers1057516619
23andMe allrs1057516619
SNPshotrs1057516619
SNPdbers1057516619
MSV3drs1057516619
GWAS Ctlgrs1057516619
Max Magnitude0
ClinVar
Risk rs1057516619(T;T)
Alt rs1057516619(T;T)
Reference Rs1057516619(A;A)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117176723A>T
CLNSRC
CLNACC RCV000410831.1,