rs145942328
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs145942328(C;T) |
Make rs145942328(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48613072 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs145942328 |
dbSNP (classic) | rs145942328 |
ClinGen | rs145942328 |
ebi | rs145942328 |
HLI | rs145942328 |
Exac | rs145942328 |
Gnomad | rs145942328 |
Varsome | rs145942328 |
LitVar | rs145942328 |
Map | rs145942328 |
PheGenI | rs145942328 |
Biobank | rs145942328 |
1000 genomes | rs145942328 |
hgdp | rs145942328 |
ensembl | rs145942328 |
geneview | rs145942328 |
scholar | rs145942328 |
rs145942328 | |
pharmgkb | rs145942328 |
gwascentral | rs145942328 |
openSNP | rs145942328 |
23andMe | rs145942328 |
SNPshot | rs145942328 |
SNPdbe | rs145942328 |
MSV3d | rs145942328 |
GWAS Ctlg | rs145942328 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145942328(T;T) |
Alt | rs145942328(T;T) |
Reference | Rs145942328(C;C) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.48905269C>T |
CLNSRC | ClinVar |
CLNACC | RCV000035130.2, |