rs672601314
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs672601314(A;A) |
Make rs672601314(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 117652932 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs672601314 |
dbSNP (classic) | rs672601314 |
ClinGen | rs672601314 |
ebi | rs672601314 |
HLI | rs672601314 |
Exac | rs672601314 |
Gnomad | rs672601314 |
Varsome | rs672601314 |
LitVar | rs672601314 |
Map | rs672601314 |
PheGenI | rs672601314 |
Biobank | rs672601314 |
1000 genomes | rs672601314 |
hgdp | rs672601314 |
ensembl | rs672601314 |
geneview | rs672601314 |
scholar | rs672601314 |
rs672601314 | |
pharmgkb | rs672601314 |
gwascentral | rs672601314 |
openSNP | rs672601314 |
23andMe | rs672601314 |
SNPshot | rs672601314 |
SNPdbe | rs672601314 |
MSV3d | rs672601314 |
GWAS Ctlg | rs672601314 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601314(A;A) rs672601314(C;C) |
Alt | rs672601314(A;A) rs672601314(C;C) |
Reference | Rs672601314(G;G) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117292986G>A; NC_000007.13:g.117292986G>C |
CLNSRC | |
CLNACC | RCV000149421.1, RCV000411114.1, |