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rs121908768

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CTT) 3 cystic fibrosis carrier
(CTT;CTT) 0 common in clinvar


Make rs121908768(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540163
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908768
dbSNP (classic)rs121908768
ClinGenrs121908768
ebirs121908768
HLIrs121908768
Exacrs121908768
Gnomadrs121908768
Varsomers121908768
LitVarrs121908768
Maprs121908768
PheGenIrs121908768
Biobankrs121908768
1000 genomesrs121908768
hgdprs121908768
ensemblrs121908768
geneviewrs121908768
scholarrs121908768
googlers121908768
pharmgkbrs121908768
gwascentralrs121908768
openSNPrs121908768
23andMers121908768
SNPshotrs121908768
SNPdbers121908768
MSV3drs121908768
GWAS Ctlgrs121908768
Merged fromRs587777924
Max Magnitude3
ClinVar
Risk rs121908768(-;-) rs121908768(TCT;TCT)
Alt rs121908768(-;-) rs121908768(TCT;TCT)
Reference Rs121908768(CTT;CTT)
Significance Pathogenic
Disease Cystic fibrosis not provided Hereditary pancreatitis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.117180219_117180221delTCT
CLNSRC HGMD
CLNACC RCV000047290.3, RCV000079015.3, RCV000368119.1,