rs397515830
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | Marfan syndrome mutation |
(G;G) | 0 | common in clinvar |
Make rs397515830(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48441765 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs397515830 |
dbSNP (classic) | rs397515830 |
ClinGen | rs397515830 |
ebi | rs397515830 |
HLI | rs397515830 |
Exac | rs397515830 |
Gnomad | rs397515830 |
Varsome | rs397515830 |
LitVar | rs397515830 |
Map | rs397515830 |
PheGenI | rs397515830 |
Biobank | rs397515830 |
1000 genomes | rs397515830 |
hgdp | rs397515830 |
ensembl | rs397515830 |
geneview | rs397515830 |
scholar | rs397515830 |
rs397515830 | |
pharmgkb | rs397515830 |
gwascentral | rs397515830 |
openSNP | rs397515830 |
23andMe | rs397515830 |
SNPshot | rs397515830 |
SNPdbe | rs397515830 |
MSV3d | rs397515830 |
GWAS Ctlg | rs397515830 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs397515830(A;A) |
Alt | rs397515830(A;A) |
Reference | Rs397515830(G;G) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48733962C>T |
CLNSRC | ClinVar |
CLNACC | RCV000035239.2, |