rs140627
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140627(G;T) |
Make rs140627(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48463949 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs140627 |
dbSNP (classic) | rs140627 |
ClinGen | rs140627 |
ebi | rs140627 |
HLI | rs140627 |
Exac | rs140627 |
Gnomad | rs140627 |
Varsome | rs140627 |
LitVar | rs140627 |
Map | rs140627 |
PheGenI | rs140627 |
Biobank | rs140627 |
1000 genomes | rs140627 |
hgdp | rs140627 |
ensembl | rs140627 |
geneview | rs140627 |
scholar | rs140627 |
rs140627 | |
pharmgkb | rs140627 |
gwascentral | rs140627 |
openSNP | rs140627 |
23andMe | rs140627 |
SNPshot | rs140627 |
SNPdbe | rs140627 |
MSV3d | rs140627 |
GWAS Ctlg | rs140627 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs140627(A;A) rs140627(T;T) |
Alt | rs140627(A;A) rs140627(T;T) |
Reference | Rs140627(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.48756146C>T |
CLNSRC | |
CLNACC | RCV000181694.1, |