rs121909010
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | cystic fibrosis carrier |
(G;G) | 0 | common in clinvar |
Make rs121909010(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117652915 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs121909010 |
dbSNP (classic) | rs121909010 |
ClinGen | rs121909010 |
ebi | rs121909010 |
HLI | rs121909010 |
Exac | rs121909010 |
Gnomad | rs121909010 |
Varsome | rs121909010 |
LitVar | rs121909010 |
Map | rs121909010 |
PheGenI | rs121909010 |
Biobank | rs121909010 |
1000 genomes | rs121909010 |
hgdp | rs121909010 |
ensembl | rs121909010 |
geneview | rs121909010 |
scholar | rs121909010 |
rs121909010 | |
pharmgkb | rs121909010 |
gwascentral | rs121909010 |
openSNP | rs121909010 |
23andMe | rs121909010 |
SNPshot | rs121909010 |
SNPdbe | rs121909010 |
MSV3d | rs121909010 |
GWAS Ctlg | rs121909010 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121909010(A;A) |
Alt | rs121909010(A;A) |
Reference | Rs121909010(G;G) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117292969G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007553.3, |