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rs121908752

From SNPedia

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


Make rs121908752(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117535285
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908752
ebirs121908752
HLIrs121908752
Exacrs121908752
Varsomers121908752
Maprs121908752
PheGenIrs121908752
hapmaprs121908752
1000 genomesrs121908752
hgdprs121908752
ensemblrs121908752
gopubmedrs121908752
geneviewrs121908752
scholarrs121908752
googlers121908752
pharmgkbrs121908752
gwascentralrs121908752
openSNPrs121908752
23andMers121908752
23andMe allrs121908752
SNP Nexus

SNPshotrs121908752
SNPdbers121908752
MSV3drs121908752
GWAS Ctlgrs121908752
Merged fromRs121909030
Max Magnitude3

Cystic fibrosis; c.617T>G, Leu206Trp or L206W

named i5006101 and i5010968 by 23andMe

OMIM602421
Desc
Variant0084
Relatedalso
ClinVar
Risk rs121908752(G;G)
Alt rs121908752(G;G)
Reference rs121908752(T;T)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117175339T>G
CLNSRC CFTR2 HGMD OMIM Allelic Variant
CLNACC RCV000007611.7, RCV000079011.3,