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rs121908764

From SNPedia

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


Make rs121908764(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627664
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908764
ebirs121908764
HLIrs121908764
Exacrs121908764
Varsomers121908764
Maprs121908764
PheGenIrs121908764
hapmaprs121908764
1000 genomesrs121908764
hgdprs121908764
ensemblrs121908764
gopubmedrs121908764
geneviewrs121908764
scholarrs121908764
googlers121908764
pharmgkbrs121908764
gwascentralrs121908764
openSNPrs121908764
23andMers121908764
23andMe allrs121908764
SNP Nexus

SNPshotrs121908764
SNPdbers121908764
MSV3drs121908764
GWAS Ctlgrs121908764
Max Magnitude3

Cystic fibrosis; c.3611G>A, p.Trp1204Ter

named i5011957 and i5006120 by 23andMe

OMIM602421
Desc
Variant0107
Relatedalso
ClinVar
Risk rs121908764(A;A)
Alt rs121908764(A;A)
Reference rs121908764(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267718G>A
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007633.5,