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rs121908788

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 3 carrier of a cystic fibrosis allele
Make rs121908788(-;-)
Make rs121908788(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603611
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908788
ebirs121908788
HLIrs121908788
Exacrs121908788
Varsomers121908788
Maprs121908788
PheGenIrs121908788
hapmaprs121908788
1000 genomesrs121908788
hgdprs121908788
ensemblrs121908788
gopubmedrs121908788
geneviewrs121908788
scholarrs121908788
googlers121908788
pharmgkbrs121908788
gwascentralrs121908788
openSNPrs121908788
23andMers121908788
23andMe allrs121908788
SNP Nexus

SNPshotrs121908788
SNPdbers121908788
MSV3drs121908788
GWAS Ctlgrs121908788
Max Magnitude3

Cystic fibrosis; c.2737_2738insG , p.Tyr913Terfs

named i5012228 by 23andMe

OMIM602421
Desc
Variant0045
Relatedalso
ClinVar
Risk rs121908788(G;G)
Alt rs121908788(G;G)
Reference rs121908788(;)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243665_117243666insG
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007569.3,


[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.