rs876657645
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs876657645(-;-) |
Make rs876657645(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 48510042 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs876657645 |
dbSNP (classic) | rs876657645 |
ClinGen | rs876657645 |
ebi | rs876657645 |
HLI | rs876657645 |
Exac | rs876657645 |
Gnomad | rs876657645 |
Varsome | rs876657645 |
LitVar | rs876657645 |
Map | rs876657645 |
PheGenI | rs876657645 |
Biobank | rs876657645 |
1000 genomes | rs876657645 |
hgdp | rs876657645 |
ensembl | rs876657645 |
geneview | rs876657645 |
scholar | rs876657645 |
rs876657645 | |
pharmgkb | rs876657645 |
gwascentral | rs876657645 |
openSNP | rs876657645 |
23andMe | rs876657645 |
SNPshot | rs876657645 |
SNPdbe | rs876657645 |
MSV3d | rs876657645 |
GWAS Ctlg | rs876657645 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657645(-;-) |
Alt | rs876657645(-;-) |
Reference | Rs876657645(T;T) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48802239delA |
CLNSRC | |
CLNACC | RCV000216719.1, |