rs140954477
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140954477(C;T) |
Make rs140954477(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48490006 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs140954477 |
dbSNP (classic) | rs140954477 |
ClinGen | rs140954477 |
ebi | rs140954477 |
HLI | rs140954477 |
Exac | rs140954477 |
Gnomad | rs140954477 |
Varsome | rs140954477 |
LitVar | rs140954477 |
Map | rs140954477 |
PheGenI | rs140954477 |
Biobank | rs140954477 |
1000 genomes | rs140954477 |
hgdp | rs140954477 |
ensembl | rs140954477 |
geneview | rs140954477 |
scholar | rs140954477 |
rs140954477 | |
pharmgkb | rs140954477 |
gwascentral | rs140954477 |
openSNP | rs140954477 |
23andMe | rs140954477 |
SNPshot | rs140954477 |
SNPdbe | rs140954477 |
MSV3d | rs140954477 |
GWAS Ctlg | rs140954477 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140954477(T;T) |
Alt | rs140954477(T;T) |
Reference | Rs140954477(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | not specified Marfan syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.48782203C>T |
CLNSRC | |
CLNACC | RCV000035155.3, RCV000148497.1, |