rs121908796
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | carrier of a cystic fibrosis allele |
Make rs121908796(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 117590444 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs121908796 |
dbSNP (classic) | rs121908796 |
ClinGen | rs121908796 |
ebi | rs121908796 |
HLI | rs121908796 |
Exac | rs121908796 |
Gnomad | rs121908796 |
Varsome | rs121908796 |
LitVar | rs121908796 |
Map | rs121908796 |
PheGenI | rs121908796 |
Biobank | rs121908796 |
1000 genomes | rs121908796 |
hgdp | rs121908796 |
ensembl | rs121908796 |
geneview | rs121908796 |
scholar | rs121908796 |
rs121908796 | |
pharmgkb | rs121908796 |
gwascentral | rs121908796 |
openSNP | rs121908796 |
23andMe | rs121908796 |
SNPshot | rs121908796 |
SNPdbe | rs121908796 |
MSV3d | rs121908796 |
GWAS Ctlg | rs121908796 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121908796(A;A) rs121908796(T;T) |
Alt | rs121908796(A;A) rs121908796(T;T) |
Reference | Rs121908796(G;G) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117230498G>A; NC_000007.13:g.117230498G>T |
CLNSRC | |
CLNACC | RCV000046467.2, RCV000046468.3, |