rs112202622
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | Marfan syndrome mutation |
(C;G) | 5.5 | Marfan syndrome mutation |
(G;G) | 0 | common in clinvar |
Make rs112202622(G;T) |
Make rs112202622(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48490079 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs112202622 |
dbSNP (classic) | rs112202622 |
ClinGen | rs112202622 |
ebi | rs112202622 |
HLI | rs112202622 |
Exac | rs112202622 |
Gnomad | rs112202622 |
Varsome | rs112202622 |
LitVar | rs112202622 |
Map | rs112202622 |
PheGenI | rs112202622 |
Biobank | rs112202622 |
1000 genomes | rs112202622 |
hgdp | rs112202622 |
ensembl | rs112202622 |
geneview | rs112202622 |
scholar | rs112202622 |
rs112202622 | |
pharmgkb | rs112202622 |
gwascentral | rs112202622 |
openSNP | rs112202622 |
23andMe | rs112202622 |
SNPshot | rs112202622 |
SNPdbe | rs112202622 |
MSV3d | rs112202622 |
GWAS Ctlg | rs112202622 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs112202622(A;A) rs112202622(C;C) rs112202622(T;T) |
Alt | rs112202622(A;A) rs112202622(C;C) rs112202622(T;T) |
Reference | Rs112202622(G;G) |
Significance | Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48782276C>G; NC_000015.9:g.48782276C>T |
CLNSRC | ClinVar |
CLNACC | RCV000029718.1, RCV000035152.2, |