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rs1057517068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517068(-;T)
Make rs1057517068(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117594993
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057517068
dbSNP (old)rs1057517068
ClinGenrs1057517068
ebirs1057517068
HLIrs1057517068
Exacrs1057517068
Gnomadrs1057517068
Varsomers1057517068
Maprs1057517068
PheGenIrs1057517068
Biobankrs1057517068
1000 genomesrs1057517068
hgdprs1057517068
ensemblrs1057517068
gopubmedrs1057517068
geneviewrs1057517068
scholarrs1057517068
googlers1057517068
pharmgkbrs1057517068
gwascentralrs1057517068
openSNPrs1057517068
23andMers1057517068
23andMe allrs1057517068
SNPshotrs1057517068
SNPdbers1057517068
MSV3drs1057517068
GWAS Ctlgrs1057517068
Max Magnitude0
ClinVar
Risk rs1057517068(T;T)
Alt rs1057517068(T;T)
Reference Rs1057517068(-;-)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235047dupT
CLNSRC
CLNACC RCV000411629.1,