rs727504651
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs727504651(AGGA;AGGA) |
Make rs727504651(AGGA;TT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 48411340 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs727504651 |
dbSNP (classic) | rs727504651 |
ClinGen | rs727504651 |
ebi | rs727504651 |
HLI | rs727504651 |
Exac | rs727504651 |
Gnomad | rs727504651 |
Varsome | rs727504651 |
LitVar | rs727504651 |
Map | rs727504651 |
PheGenI | rs727504651 |
Biobank | rs727504651 |
1000 genomes | rs727504651 |
hgdp | rs727504651 |
ensembl | rs727504651 |
geneview | rs727504651 |
scholar | rs727504651 |
rs727504651 | |
pharmgkb | rs727504651 |
gwascentral | rs727504651 |
openSNP | rs727504651 |
23andMe | rs727504651 |
SNPshot | rs727504651 |
SNPdbe | rs727504651 |
MSV3d | rs727504651 |
GWAS Ctlg | rs727504651 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504651(AGGA;AGGA) |
Alt | rs727504651(AGGA;AGGA) |
Reference | Rs727504651(TT;TT) |
Significance | Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48703537_48703538delinsTCCT |
CLNSRC | |
CLNACC | RCV000155914.1, |