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rs1057516216

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516216(C;C)
Make rs1057516216(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117592659
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057516216
dbSNP (old)rs1057516216
ClinGenrs1057516216
ebirs1057516216
HLIrs1057516216
Exacrs1057516216
Gnomadrs1057516216
Varsomers1057516216
Maprs1057516216
PheGenIrs1057516216
Biobankrs1057516216
1000 genomesrs1057516216
hgdprs1057516216
ensemblrs1057516216
gopubmedrs1057516216
geneviewrs1057516216
scholarrs1057516216
googlers1057516216
pharmgkbrs1057516216
gwascentralrs1057516216
openSNPrs1057516216
23andMers1057516216
23andMe allrs1057516216
SNPshotrs1057516216
SNPdbers1057516216
MSV3drs1057516216
GWAS Ctlgrs1057516216
Max Magnitude0
ClinVar
Risk rs1057516216(C;C)
Alt rs1057516216(C;C)
Reference Rs1057516216(T;T)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232713T>C
CLNSRC
CLNACC RCV000411517.1,