rs794728252
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794728252(A;A) |
Make rs794728252(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48436961 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs794728252 |
dbSNP (classic) | rs794728252 |
ClinGen | rs794728252 |
ebi | rs794728252 |
HLI | rs794728252 |
Exac | rs794728252 |
Gnomad | rs794728252 |
Varsome | rs794728252 |
LitVar | rs794728252 |
Map | rs794728252 |
PheGenI | rs794728252 |
Biobank | rs794728252 |
1000 genomes | rs794728252 |
hgdp | rs794728252 |
ensembl | rs794728252 |
geneview | rs794728252 |
scholar | rs794728252 |
rs794728252 | |
pharmgkb | rs794728252 |
gwascentral | rs794728252 |
openSNP | rs794728252 |
23andMe | rs794728252 |
SNPshot | rs794728252 |
SNPdbe | rs794728252 |
MSV3d | rs794728252 |
GWAS Ctlg | rs794728252 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728252(A;A) rs794728252(C;C) rs794728252(T;T) |
Alt | rs794728252(A;A) rs794728252(C;C) rs794728252(T;T) |
Reference | Rs794728252(G;G) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided not specified |
Reversed | 1 |
HGVS | NC_000015.9:g.48729158C>A; NC_000015.9:g.48729158C>G; NC_000015.9:g.48729158C>T |
CLNSRC | |
CLNACC | RCV000181701.2, RCV000181571.2, RCV000181570.1, |