rs745680336
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs745680336(C;T) |
Make rs745680336(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48452664 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs745680336 |
dbSNP (classic) | rs745680336 |
ClinGen | rs745680336 |
ebi | rs745680336 |
HLI | rs745680336 |
Exac | rs745680336 |
Gnomad | rs745680336 |
Varsome | rs745680336 |
LitVar | rs745680336 |
Map | rs745680336 |
PheGenI | rs745680336 |
Biobank | rs745680336 |
1000 genomes | rs745680336 |
hgdp | rs745680336 |
ensembl | rs745680336 |
geneview | rs745680336 |
scholar | rs745680336 |
rs745680336 | |
pharmgkb | rs745680336 |
gwascentral | rs745680336 |
openSNP | rs745680336 |
23andMe | rs745680336 |
SNPshot | rs745680336 |
SNPdbe | rs745680336 |
MSV3d | rs745680336 |
GWAS Ctlg | rs745680336 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs745680336(A;A) rs745680336(T;T) |
Alt | rs745680336(A;A) rs745680336(T;T) |
Reference | Rs745680336(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.48744861C>T |
CLNSRC | |
CLNACC | RCV000181544.1, |