rs200321110
From SNPedia
Cystic Fibrosis related |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier for a cystic fibrosis allele |
(G;G) | 0 | common/normal |
Make rs200321110(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 117611646 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs200321110 |
dbSNP (classic) | rs200321110 |
ClinGen | rs200321110 |
ebi | rs200321110 |
HLI | rs200321110 |
Exac | rs200321110 |
Gnomad | rs200321110 |
Varsome | rs200321110 |
LitVar | rs200321110 |
Map | rs200321110 |
PheGenI | rs200321110 |
Biobank | rs200321110 |
1000 genomes | rs200321110 |
hgdp | rs200321110 |
ensembl | rs200321110 |
geneview | rs200321110 |
scholar | rs200321110 |
rs200321110 | |
pharmgkb | rs200321110 |
gwascentral | rs200321110 |
openSNP | rs200321110 |
23andMe | rs200321110 |
SNPshot | rs200321110 |
SNPdbe | rs200321110 |
MSV3d | rs200321110 |
GWAS Ctlg | rs200321110 |
Max Magnitude | 3 |
Cystic fibrosis; c.3205G>A, p.Gly1069Arg; considered by CFTR2 database to be of varying clinical consequence
named i5011825 by 23andMe
ClinVar | |
---|---|
Risk | rs200321110(A;A) |
Alt | rs200321110(A;A) |
Reference | Rs200321110(G;G) |
Significance | Untested |
Disease | Cystic fibrosis not specified |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis not specified |
Reversed | 0 |
HGVS | NC_000007.13:g.117251700G>A |
CLNSRC | |
CLNACC | RCV000046823.3, RCV000295860.1, |