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rs10234329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs10234329(A;C)
Make rs10234329(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117668151
GeneCFTR
is asnp
is mentioned by
dbSNPrs10234329
dbSNP (classic)rs10234329
ClinGenrs10234329
ebirs10234329
HLIrs10234329
Exacrs10234329
Gnomadrs10234329
Varsomers10234329
LitVarrs10234329
Maprs10234329
PheGenIrs10234329
Biobankrs10234329
1000 genomesrs10234329
hgdprs10234329
ensemblrs10234329
geneviewrs10234329
scholarrs10234329
googlers10234329
pharmgkbrs10234329
gwascentralrs10234329
openSNPrs10234329
23andMers10234329
SNPshotrs10234329
SNPdbers10234329
MSV3drs10234329
GWAS Ctlgrs10234329
GMAF0.01056
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Cystic Fibrosis mutation


ClinVar
Risk rs10234329(C;C)
Alt rs10234329(C;C)
Reference Rs10234329(A;A)
Significance Probable-non-pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117308205A>C
CLNSRC
CLNACC RCV000375001.1,