rs113602180
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113602180(G;T) |
Make rs113602180(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 48492505 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs113602180 |
dbSNP (classic) | rs113602180 |
ClinGen | rs113602180 |
ebi | rs113602180 |
HLI | rs113602180 |
Exac | rs113602180 |
Gnomad | rs113602180 |
Varsome | rs113602180 |
LitVar | rs113602180 |
Map | rs113602180 |
PheGenI | rs113602180 |
Biobank | rs113602180 |
1000 genomes | rs113602180 |
hgdp | rs113602180 |
ensembl | rs113602180 |
geneview | rs113602180 |
scholar | rs113602180 |
rs113602180 | |
pharmgkb | rs113602180 |
gwascentral | rs113602180 |
openSNP | rs113602180 |
23andMe | rs113602180 |
SNPshot | rs113602180 |
SNPdbe | rs113602180 |
MSV3d | rs113602180 |
GWAS Ctlg | rs113602180 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113602180(A;A) rs113602180(T;T) |
Alt | rs113602180(A;A) rs113602180(T;T) |
Reference | Rs113602180(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.48784702C>T |
CLNSRC | |
CLNACC | RCV000424513.1, |