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rs121908784

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 3 cystic fibrosis carrier
(A;A) 0 common in clinvar


Make rs121908784(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642464
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908784
ebirs121908784
HLIrs121908784
Exacrs121908784
Varsomers121908784
Maprs121908784
PheGenIrs121908784
hapmaprs121908784
1000 genomesrs121908784
hgdprs121908784
ensemblrs121908784
gopubmedrs121908784
geneviewrs121908784
scholarrs121908784
googlers121908784
pharmgkbrs121908784
gwascentralrs121908784
openSNPrs121908784
23andMers121908784
23andMe allrs121908784
SNP Nexus

SNPshotrs121908784
SNPdbers121908784
MSV3drs121908784
GWAS Ctlgrs121908784
Max Magnitude3

Cystic fibrosis; c.3744delA, p.Lys1250Argfs

named i4000323 and i5012003 by 23andMe

OMIM602421
Desc
Variant0127
Relatedalso
ClinVar
Risk rs121908784(C,CT;C,CT)
Alt rs121908784(C,CT;C,CT)
Reference rs121908784(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282518delA
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007653.5,