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rs121908758

From SNPedia

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


Make rs121908758(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117590394
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908758
ebirs121908758
HLIrs121908758
Exacrs121908758
Varsomers121908758
Maprs121908758
PheGenIrs121908758
hapmaprs121908758
1000 genomesrs121908758
hgdprs121908758
ensemblrs121908758
gopubmedrs121908758
geneviewrs121908758
scholarrs121908758
googlers121908758
pharmgkbrs121908758
gwascentralrs121908758
openSNPrs121908758
23andMers121908758
23andMe allrs121908758
SNP Nexus

SNPshotrs121908758
SNPdbers121908758
MSV3drs121908758
GWAS Ctlgrs121908758
Merged fromRs121909007
Max Magnitude3
OMIM602421
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908758(A;A)
Alt rs121908758(A;A)
Reference rs121908758(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117230448C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007539.4,