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rs121908767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ATAGTG) 3 Cystic Fibrosis carrier
(AGTGAT;AGTGAT) 0 common in clinvar
(GATAGTG;GATAGTG) 0 common in clinvar
Make rs121908767(-;-)
Make rs121908767(ATAGTG;ATAGTG)
ReferenceGRCh38 38.1/141
Chromosome7
Position117610597
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908767
ebirs121908767
HLIrs121908767
Exacrs121908767
Varsomers121908767
Maprs121908767
PheGenIrs121908767
hapmaprs121908767
1000 genomesrs121908767
hgdprs121908767
ensemblrs121908767
gopubmedrs121908767
geneviewrs121908767
scholarrs121908767
googlers121908767
pharmgkbrs121908767
gwascentralrs121908767
openSNPrs121908767
23andMers121908767
23andMe allrs121908767
SNP Nexus

SNPshotrs121908767
SNPdbers121908767
MSV3drs121908767
GWAS Ctlgrs121908767
Max Magnitude3

Known as 3199del6 or NM_000492.3:c.3067_3072delATAGTG, rs121908767 is considered a (rare) pathogenic mutation for cystic fibrosis. [PMID 18456578OA-icon.png]


ClinVar
Risk rs121908767(G,GCACTAT;G,GCACTAT)
Alt rs121908767(G,GCACTAT;G,GCACTAT)
Reference rs121908767(AGTGAT;AGTGAT)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117250651_117250656delATAGTG
CLNSRC HGMD
CLNACC RCV000046775.5, RCV000078992.3,