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rs1057516232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516232(A;A)
Make rs1057516232(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117504255
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057516232
dbSNP (old)rs1057516232
ClinGenrs1057516232
ebirs1057516232
HLIrs1057516232
Exacrs1057516232
Gnomadrs1057516232
Varsomers1057516232
Maprs1057516232
PheGenIrs1057516232
Biobankrs1057516232
1000 genomesrs1057516232
hgdprs1057516232
ensemblrs1057516232
gopubmedrs1057516232
geneviewrs1057516232
scholarrs1057516232
googlers1057516232
pharmgkbrs1057516232
gwascentralrs1057516232
openSNPrs1057516232
23andMers1057516232
23andMe allrs1057516232
SNPshotrs1057516232
SNPdbers1057516232
MSV3drs1057516232
GWAS Ctlgrs1057516232
Max Magnitude0
ClinVar
Risk rs1057516232(A;A)
Alt rs1057516232(A;A)
Reference Rs1057516232(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117144309G>A
CLNSRC
CLNACC RCV000411729.1,