rs10234329
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs10234329(A;C) |
Make rs10234329(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117668151 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs10234329 |
dbSNP (classic) | rs10234329 |
ClinGen | rs10234329 |
ebi | rs10234329 |
HLI | rs10234329 |
Exac | rs10234329 |
Gnomad | rs10234329 |
Varsome | rs10234329 |
LitVar | rs10234329 |
Map | rs10234329 |
PheGenI | rs10234329 |
Biobank | rs10234329 |
1000 genomes | rs10234329 |
hgdp | rs10234329 |
ensembl | rs10234329 |
geneview | rs10234329 |
scholar | rs10234329 |
rs10234329 | |
pharmgkb | rs10234329 |
gwascentral | rs10234329 |
openSNP | rs10234329 |
23andMe | rs10234329 |
SNPshot | rs10234329 |
SNPdbe | rs10234329 |
MSV3d | rs10234329 |
GWAS Ctlg | rs10234329 |
GMAF | 0.01056 |
Max Magnitude | 0 |
? | (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, |