rs191989961
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs191989961(C;T) |
Make rs191989961(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48474614 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs191989961 |
dbSNP (classic) | rs191989961 |
ClinGen | rs191989961 |
ebi | rs191989961 |
HLI | rs191989961 |
Exac | rs191989961 |
Gnomad | rs191989961 |
Varsome | rs191989961 |
LitVar | rs191989961 |
Map | rs191989961 |
PheGenI | rs191989961 |
Biobank | rs191989961 |
1000 genomes | rs191989961 |
hgdp | rs191989961 |
ensembl | rs191989961 |
geneview | rs191989961 |
scholar | rs191989961 |
rs191989961 | |
pharmgkb | rs191989961 |
gwascentral | rs191989961 |
openSNP | rs191989961 |
23andMe | rs191989961 |
SNPshot | rs191989961 |
SNPdbe | rs191989961 |
MSV3d | rs191989961 |
GWAS Ctlg | rs191989961 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs191989961(T;T) |
Alt | rs191989961(T;T) |
Reference | Rs191989961(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | FBN1 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000015.9:g.48766811C>T |
CLNSRC | ClinVar |
CLNACC | RCV000035184.3, |