rs363853
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5.5 | Marfan syndrome mutation |
(T;T) | 0 | common in clinvar |
Make rs363853(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 48596292 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs363853 |
dbSNP (classic) | rs363853 |
ClinGen | rs363853 |
ebi | rs363853 |
HLI | rs363853 |
Exac | rs363853 |
Gnomad | rs363853 |
Varsome | rs363853 |
LitVar | rs363853 |
Map | rs363853 |
PheGenI | rs363853 |
Biobank | rs363853 |
1000 genomes | rs363853 |
hgdp | rs363853 |
ensembl | rs363853 |
geneview | rs363853 |
scholar | rs363853 |
rs363853 | |
pharmgkb | rs363853 |
gwascentral | rs363853 |
openSNP | rs363853 |
23andMe | rs363853 |
SNPshot | rs363853 |
SNPdbe | rs363853 |
MSV3d | rs363853 |
GWAS Ctlg | rs363853 |
Max Magnitude | 5.5 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs363853(C;C) |
Alt | rs363853(C;C) |
Reference | Rs363853(T;T) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48888489A>G |
CLNSRC | ClinVar |
CLNACC | RCV000035222.2, |