rs111856492
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5.5 | Marfan syndrome mutation |
Make rs111856492(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48415695 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs111856492 |
dbSNP (classic) | rs111856492 |
ClinGen | rs111856492 |
ebi | rs111856492 |
HLI | rs111856492 |
Exac | rs111856492 |
Gnomad | rs111856492 |
Varsome | rs111856492 |
LitVar | rs111856492 |
Map | rs111856492 |
PheGenI | rs111856492 |
Biobank | rs111856492 |
1000 genomes | rs111856492 |
hgdp | rs111856492 |
ensembl | rs111856492 |
geneview | rs111856492 |
scholar | rs111856492 |
rs111856492 | |
pharmgkb | rs111856492 |
gwascentral | rs111856492 |
openSNP | rs111856492 |
23andMe | rs111856492 |
SNPshot | rs111856492 |
SNPdbe | rs111856492 |
MSV3d | rs111856492 |
GWAS Ctlg | rs111856492 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs111856492(A;A) rs111856492(T;T) |
Alt | rs111856492(A;A) rs111856492(T;T) |
Reference | Rs111856492(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | FBN1 |
CLNDBN | not specified |
Reversed | 1 |
HGVS | NC_000015.9:g.48707892C>T |
CLNSRC | ClinVar |
CLNACC | RCV000035281.3, |