rs864309713
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs864309713(-;A) |
Make rs864309713(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48463993 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs864309713 |
dbSNP (classic) | rs864309713 |
ClinGen | rs864309713 |
ebi | rs864309713 |
HLI | rs864309713 |
Exac | rs864309713 |
Gnomad | rs864309713 |
Varsome | rs864309713 |
LitVar | rs864309713 |
Map | rs864309713 |
PheGenI | rs864309713 |
Biobank | rs864309713 |
1000 genomes | rs864309713 |
hgdp | rs864309713 |
ensembl | rs864309713 |
geneview | rs864309713 |
scholar | rs864309713 |
rs864309713 | |
pharmgkb | rs864309713 |
gwascentral | rs864309713 |
openSNP | rs864309713 |
23andMe | rs864309713 |
SNPshot | rs864309713 |
SNPdbe | rs864309713 |
MSV3d | rs864309713 |
GWAS Ctlg | rs864309713 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309713(A;A) |
Alt | rs864309713(A;A) |
Reference | Rs864309713(-;-) |
Significance | Probable-Pathogenic |
Disease | Congenital diaphragmatic hernia |
Variation | info |
Gene | FBN1 |
CLNDBN | Congenital diaphragmatic hernia |
Reversed | 1 |
HGVS | NC_000015.9:g.48756190_48756191insT |
CLNSRC | |
CLNACC | RCV000203287.1, |