rs775543440
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs775543440(C;C) |
Make rs775543440(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48474315 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs775543440 |
dbSNP (classic) | rs775543440 |
ClinGen | rs775543440 |
ebi | rs775543440 |
HLI | rs775543440 |
Exac | rs775543440 |
Gnomad | rs775543440 |
Varsome | rs775543440 |
LitVar | rs775543440 |
Map | rs775543440 |
PheGenI | rs775543440 |
Biobank | rs775543440 |
1000 genomes | rs775543440 |
hgdp | rs775543440 |
ensembl | rs775543440 |
geneview | rs775543440 |
scholar | rs775543440 |
rs775543440 | |
pharmgkb | rs775543440 |
gwascentral | rs775543440 |
openSNP | rs775543440 |
23andMe | rs775543440 |
SNPshot | rs775543440 |
SNPdbe | rs775543440 |
MSV3d | rs775543440 |
GWAS Ctlg | rs775543440 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775543440(C;C) |
Alt | rs775543440(C;C) |
Reference | Rs775543440(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.48766512T>C |
CLNSRC | |
CLNACC | RCV000181510.2, |