rs747049980
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs747049980(G;T) |
Make rs747049980(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48537625 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs747049980 |
dbSNP (classic) | rs747049980 |
ClinGen | rs747049980 |
ebi | rs747049980 |
HLI | rs747049980 |
Exac | rs747049980 |
Gnomad | rs747049980 |
Varsome | rs747049980 |
LitVar | rs747049980 |
Map | rs747049980 |
PheGenI | rs747049980 |
Biobank | rs747049980 |
1000 genomes | rs747049980 |
hgdp | rs747049980 |
ensembl | rs747049980 |
geneview | rs747049980 |
scholar | rs747049980 |
rs747049980 | |
pharmgkb | rs747049980 |
gwascentral | rs747049980 |
openSNP | rs747049980 |
23andMe | rs747049980 |
SNPshot | rs747049980 |
SNPdbe | rs747049980 |
MSV3d | rs747049980 |
GWAS Ctlg | rs747049980 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747049980(A;A) rs747049980(T;T) |
Alt | rs747049980(A;A) rs747049980(T;T) |
Reference | Rs747049980(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.48829822G>A |
CLNSRC | |
CLNACC | RCV000181416.1, |