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rs1057516609

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516609(A;A)
Make rs1057516609(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117627586
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057516609
dbSNP (old)rs1057516609
ClinGenrs1057516609
ebirs1057516609
HLIrs1057516609
Exacrs1057516609
Gnomadrs1057516609
Varsomers1057516609
Maprs1057516609
PheGenIrs1057516609
Biobankrs1057516609
1000 genomesrs1057516609
hgdprs1057516609
ensemblrs1057516609
gopubmedrs1057516609
geneviewrs1057516609
scholarrs1057516609
googlers1057516609
pharmgkbrs1057516609
gwascentralrs1057516609
openSNPrs1057516609
23andMers1057516609
23andMe allrs1057516609
SNPshotrs1057516609
SNPdbers1057516609
MSV3drs1057516609
GWAS Ctlgrs1057516609
Max Magnitude0
ClinVar
Risk rs1057516609(A;A)
Alt rs1057516609(A;A)
Reference Rs1057516609(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267640C>A
CLNSRC
CLNACC RCV000411279.1,