rs397515834
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;TT) | 5.5 | Marfan syndrome mutation |
(TT;TT) | 0 | common in clinvar |
Make rs397515834(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48434694 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs397515834 |
dbSNP (classic) | rs397515834 |
ClinGen | rs397515834 |
ebi | rs397515834 |
HLI | rs397515834 |
Exac | rs397515834 |
Gnomad | rs397515834 |
Varsome | rs397515834 |
LitVar | rs397515834 |
Map | rs397515834 |
PheGenI | rs397515834 |
Biobank | rs397515834 |
1000 genomes | rs397515834 |
hgdp | rs397515834 |
ensembl | rs397515834 |
geneview | rs397515834 |
scholar | rs397515834 |
rs397515834 | |
pharmgkb | rs397515834 |
gwascentral | rs397515834 |
openSNP | rs397515834 |
23andMe | rs397515834 |
SNPshot | rs397515834 |
SNPdbe | rs397515834 |
MSV3d | rs397515834 |
GWAS Ctlg | rs397515834 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs397515834(G;G) |
Alt | rs397515834(G;G) |
Reference | Rs397515834(TT;TT) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48726891_48726892delAAinsC |
CLNSRC | ClinVar |
CLNACC | RCV000035245.2, |