rs112660651
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs112660651(G;T) |
Make rs112660651(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48610808 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs112660651 |
dbSNP (classic) | rs112660651 |
ClinGen | rs112660651 |
ebi | rs112660651 |
HLI | rs112660651 |
Exac | rs112660651 |
Gnomad | rs112660651 |
Varsome | rs112660651 |
LitVar | rs112660651 |
Map | rs112660651 |
PheGenI | rs112660651 |
Biobank | rs112660651 |
1000 genomes | rs112660651 |
hgdp | rs112660651 |
ensembl | rs112660651 |
geneview | rs112660651 |
scholar | rs112660651 |
rs112660651 | |
pharmgkb | rs112660651 |
gwascentral | rs112660651 |
openSNP | rs112660651 |
23andMe | rs112660651 |
SNPshot | rs112660651 |
SNPdbe | rs112660651 |
MSV3d | rs112660651 |
GWAS Ctlg | rs112660651 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112660651(A;A) rs112660651(C;C) rs112660651(T;T) |
Alt | rs112660651(A;A) rs112660651(C;C) rs112660651(T;T) |
Reference | Rs112660651(G;G) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.48903005C>G; NC_000015.9:g.48903005C>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029715.1, RCV000181643.2, |