rs363808
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs363808(G;T) |
Make rs363808(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 48445375 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs363808 |
dbSNP (classic) | rs363808 |
ClinGen | rs363808 |
ebi | rs363808 |
HLI | rs363808 |
Exac | rs363808 |
Gnomad | rs363808 |
Varsome | rs363808 |
LitVar | rs363808 |
Map | rs363808 |
PheGenI | rs363808 |
Biobank | rs363808 |
1000 genomes | rs363808 |
hgdp | rs363808 |
ensembl | rs363808 |
geneview | rs363808 |
scholar | rs363808 |
rs363808 | |
pharmgkb | rs363808 |
gwascentral | rs363808 |
openSNP | rs363808 |
23andMe | rs363808 |
SNPshot | rs363808 |
SNPdbe | rs363808 |
MSV3d | rs363808 |
GWAS Ctlg | rs363808 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs363808(A;A) rs363808(T;T) |
Alt | rs363808(A;A) rs363808(T;T) |
Reference | Rs363808(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.48737572C>T |
CLNSRC | |
CLNACC | RCV000274273.1, |